AMBRA1

Basic Information

Gene Symbol	AMBRA1
Entrez Id	55626
Position	chr11:46417964..46612914
Description	autophagy/beclin-1 regulator 1
Gene type	protein-coding

SNP Information

SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*
rs10160701	11:46551918	T/C	AMBRA1	intron	1.000	1.09330	0.0142	3.032E-10		5
rs10838602	11:46524472	A/G	AMBRA1	intron	1.000	1.08698	0.0143	4.898E-9		5
rs11038895	11:46447246	T/C	AMBRA1	intron	0.777	0.98896	0.0186	0.5515		7
rs11038897	11:46470827	T/C	AMBRA1	intron	1.000	1.09232	0.0142	4.391E-10		5
rs11038900	11:46495302	A/G	AMBRA1	intron	0.991	0.91430	0.0143	3.327E-10		6
rs11038906	11:46536442	A/G	AMBRA1	intron	0.992	1.09417	0.0143	3.543E-10		7
rs11038910	11:46543524	T/C	AMBRA1	intron	0.995	1.06194	0.0118	3.459E-7		7
rs11038913	11:46559730	T/C	AMBRA1	intron	0.892	0.98580	0.0182	0.4325		4
rs11038914	11:46561301	T/C	AMBRA1	intron	1.010	1.09330	0.0141	2.733E-10		7
rs11038919	11:46585781	A/G	AMBRA1	intron	0.989	0.91888	0.0144	4.588E-9		6
rs11038922	11:46594364	C/G	AMBRA1	intron	0.882	0.96764	0.0335	0.3261		7
rs11038927	11:46599248	C/G	AMBRA1	intron	0.996	1.09188	0.0143	8.574E-10		7
rs111449880	11:46427855	A/G	AMBRA1	intron	0.985	1.08850	0.0143	2.811E-9		6
rs111807821	11:46524731	A/T	AMBRA1	intron	0.719	1.02593	0.0232	0.2687		4
rs112060320	11:46447589	A/C	AMBRA1	intron	0.925	0.99253	0.0180	0.6779		6
rs112419908	11:46553399	A/G	AMBRA1	intron	1.000	1.08709	0.0143	5.092E-9		7
rs112705011	11:46589107	T/C	AMBRA1	intron	0.979	1.08785	0.0147	1.024E-8		7
rs112897300	11:46587506	A/G	AMBRA1	intron	0.685	0.94111	0.0412	0.1409		6
rs112959855	11:46554666	T/C	AMBRA1	intron	0.684	1.13701	0.0565	0.02294		6
rs112982888	11:46609489	T/C	AMBRA1	intron	0.704	0.95715	0.0691	0.5263		5
rs113236040	11:46594237	A/G	AMBRA1	intron	0.673	0.88444	0.0542	0.02356		7
rs113338170	11:46434493	T/C	AMBRA1	intron	0.684	1.05580	0.0688	0.43		5
rs113446918	11:46589657	T/C	AMBRA1	intron	0.925	0.99442	0.0180	0.7569		7
rs113953350	11:46492239	A/G	AMBRA1	intron	0.680	0.88179	0.0559	0.02442		5
rs116917714	11:46497932	T/G	AMBRA1	intron	0.794	1.01258	0.0489	0.7977		4
rs117021349	11:46434418	A/G	AMBRA1	intron	0.778	1.04331	0.0526	0.4208		7
rs117082751	11:46572918	A/G	AMBRA1	intron	0.602	0.88683	0.0465	0.009821		7
rs117377924	11:46436751	T/C	AMBRA1	intron	0.741	0.98896	0.0535	0.8355		5
rs117447018	11:46486757	A/T	AMBRA1	intron	0.665	1.04592	0.0531	0.3984		7
rs117528979	11:46534452	C/G	AMBRA1	intron	0.729	0.99720	0.0526	0.958		5
rs117574045	11:46470697	T/C	AMBRA1	intron	0.645	0.88595	0.0453	0.00752		5
rs117659675	11:46570522	A/G	AMBRA1	intron	0.639	0.91640	0.0422	0.03849		7
rs117908706	11:46449291	A/G	AMBRA1	intron	0.811	0.97064	0.0331	0.3679		5
rs117962111	11:46444301	A/G	AMBRA1	intron	0.603	0.97434	0.0530	0.6234		4
rs118047697	11:46534017	T/C	AMBRA1	intron	0.729	1.00270	0.0526	0.9588		7
rs12272795	11:46544072	A/G	AMBRA1	intron	0.990	0.91778	0.0142	1.351E-9		3a
rs12283172	11:46442526	T/C	AMBRA1	intron	1.000	1.08556	0.0143	8.79E-9		6
rs12290779	11:46594971	A/C	AMBRA1	intron	0.758	0.90892	0.0267	0.0003517		6
rs12295266	11:46607954	A/T	AMBRA1	intron	1.000	0.92063	0.0143	6.851E-9		6
rs12573978	11:46578400	A/G	AMBRA1	intron	1.000	0.91897	0.0143	3.076E-9		6
rs12574250	11:46491159	A/G	AMBRA1	intron	0.999	1.08502	0.0143	1.107E-8		6
rs12574668	11:46422686	A/C	AMBRA1	intron	0.998	1.09243	0.0142	5.19E-10		5
rs12576317	11:46573776	A/G	AMBRA1	intron	1.000	1.08883	0.0143	2.506E-9		7
rs12576359	11:46524389	T/G	AMBRA1	intron	1.000	0.91998	0.0143	4.901E-9		7
rs12578042	11:46515004	C/G	AMBRA1	intron	1.000	0.91539	0.0142	4.314E-10		7
rs138266103	11:46554979	C/G	AMBRA1	intron	0.817	0.89718	0.0507	0.03244		-
rs138646165	11:46475768	A/G	AMBRA1	intron	0.680	0.97550	0.0419	0.5548		-
rs139101370	11:46561094	T/C	AMBRA1	intron	0.706	1.04928	0.0369	0.1919		-
rs139362284	11:46607172	T/C	AMBRA1	intron	0.956	1.08567	0.0141	5.775E-9		-
rs139763709	11:46488793	T/C	AMBRA1	intron	0.764	0.94526	0.0594	0.3436		-
rs140502323	11:46441384	A/G	AMBRA1	intron	0.783	1.07240	0.0363	0.05401		-
rs140881427	11:46450781	C/G	AMBRA1	intron	0.618	0.96628	0.0602	0.5686		-
rs141181296	11:46537370	T/C	AMBRA1	intron	0.882	1.12131	0.0282	0.00004877		-
rs141758483	11:46511477	A/G	AMBRA1	intron	0.870	0.94280	0.0393	0.1341		-
rs142195817	11:46542940	T/C	AMBRA1	intron	0.857	0.92450	0.0620	0.2057		-
rs142196448	11:46495373	A/T	AMBRA1	intron	0.682	0.97054	0.0421	0.478		-
rs144054572	11:46516149	T/C	AMBRA1	intron	0.710	1.09002	0.0466	0.06457		-
rs144313070	11:46532804	A/G	AMBRA1	intron	0.691	0.90312	0.0416	0.01434		-
rs145859376	11:46566989	T/G	AMBRA1	intron	0.685	0.90837	0.0402	0.01694		-
rs146387773	11:46533138	T/C	AMBRA1	intron	0.771	1.05390	0.0594	0.3767		-
rs148373547	11:46548957	A/G	AMBRA1	intron	0.635	0.90728	0.0435	0.02535		-
rs148500124	11:46446402	A/G	AMBRA1	intron	0.723	1.01990	0.0440	0.6537		-
rs150243808	11:46554131	T/C	AMBRA1	intron	0.861	1.06332	0.0399	0.124		-
rs150757221	11:46612511	C/G	AMBRA1	intron	0.631	1.10473	0.0434	0.02168		-
rs150911921	11:46449117	C/G	AMBRA1	intron	0.680	1.00331	0.0519	0.9491		-
rs16938506	11:46454313	A/C	AMBRA1	intron	1.000	0.91631	0.0142	6.494E-10		7
rs17196997	11:46449042	A/C	AMBRA1	intron	0.702	0.97804	0.0385	0.5649		4
rs17197116	11:46520302	T/C	AMBRA1	intron	0.999	0.93417	0.0197	0.0005283		7
rs17725808	11:46444458	T/C	AMBRA1	intron	0.788	1.02204	0.0324	0.5009		4
rs17787739	11:46452263	A/G	AMBRA1	intron	0.814	0.96793	0.0330	0.3223		3a
rs17787804	11:46506885	T/C	AMBRA1	intron	0.985	1.06216	0.0119	3.838E-7		7
rs180716764	11:46431964	A/G	AMBRA1	intron	0.660	0.96069	0.0539	0.4575		-
rs181017237	11:46490257	A/G	AMBRA1	intron	0.662	1.05348	0.0549	0.343		-
rs182261904	11:46514566	T/C	AMBRA1	intron	0.744	0.93735	0.0391	0.09736		-
rs182464262	11:46499178	T/C	AMBRA1	intron	0.794	1.01258	0.0489	0.7977		-
rs182595686	11:46433097	T/C	AMBRA1	intron	0.620	1.16964	0.0580	0.006899		-
rs183345152	11:46508879	A/G	AMBRA1	intron	0.649	1.16707	0.0631	0.01434		-
rs184531425	11:46458109	T/C	AMBRA1	intron	0.603	1.13145	0.0550	0.02469		-
rs185516077	11:46600536	A/C	AMBRA1	intron	0.721	0.96532	0.0597	0.5541		-
rs185947847	11:46589160	C/G	AMBRA1	intron	0.701	0.93538	0.0645	0.3009		-
rs189055804	11:46492997	A/G	AMBRA1	intron	0.725	1.02183	0.0396	0.5854		-
rs189761107	11:46490133	A/G	AMBRA1	intron	0.661	0.91165	0.0412	0.02475		-
rs192352386	11:46607479	T/C	AMBRA1	intron	0.697	0.91037	0.0387	0.01534		-
rs192743102	11:46513248	A/C	AMBRA1	intron	0.767	1.13100	0.0568	0.03017		-
rs192885019	11:46539033	T/G	AMBRA1	intron	0.604	0.94847	0.0465	0.255		-
rs2171667	11:46467092	C/G	AMBRA1	intron	1.000	0.91539	0.0142	4.405E-10		7
rs2171668	11:46466828	A/C	AMBRA1	intron	1.000	0.91539	0.0142	4.389E-10		7
rs2291487	11:46456344	T/C	AMBRA1	intron	1.000	1.08752	0.0143	4.218E-9		7
rs2864072	11:46468859	A/C	AMBRA1	intron	1.000	0.91897	0.0142	2.949E-9		7
rs2864076	11:46460038	T/C	AMBRA1	intron	1.000	1.09199	0.0142	5.366E-10		4
rs2902858	11:46524013	T/C	AMBRA1	intron	1.000	0.91594	0.0142	5.801E-10		5
rs34445491	11:46423980	C/G	AMBRA1	intron	0.870	1.06078	0.0227	0.009474		6
rs34770512	11:46544177	A/G	AMBRA1	intron	0.833	1.06972	0.0273	0.01378		4
rs34874765	11:46565407	A/G	AMBRA1	intron	0.860	0.93072	0.0467	0.1242		5
rs35385447	11:46436964	T/G	AMBRA1	intron	0.890	1.06216	0.0448	0.1788		5
rs3802888	11:46515902	A/G	AMBRA1	intron	1.000	0.91521	0.0142	3.943E-10		6
rs3802890	11:46534546	A/G	AMBRA1	intron	0.995	0.94120	0.0118	2.75E-7		4
rs41530551	11:46465394	T/C	AMBRA1	intron	0.870	1.00290	0.0431	0.9468		5
rs58147945	11:46500654	C/G	AMBRA1	intron	1.000	0.91549	0.0142	4.857E-10		7
rs61882690	11:46421576	T/G	AMBRA1	intron	0.803	0.99312	0.0490	0.8889		5
rs61882691	11:46438715	A/C	AMBRA1	intron	0.998	1.08774	0.0143	4.079E-9		7
rs61882701	11:46443275	A/G	AMBRA1	intron	1.000	1.08698	0.0143	4.993E-9		4
rs61882702	11:46450821	A/G	AMBRA1	intron	0.995	1.08839	0.0143	2.918E-9		4
rs61882704	11:46455533	T/C	AMBRA1	intron	0.997	1.08763	0.0190	9.861E-6		7
rs61882706	11:46462786	A/G	AMBRA1	intron	0.999	1.08774	0.0143	3.951E-9		7
rs61882708	11:46471039	A/G	AMBRA1	intron	0.924	1.12019	0.0306	0.0002068		7
rs61882710	11:46473942	A/G	AMBRA1	intron,near-gene-5	1.000	1.08763	0.0143	4.166E-9		7
rs61882711	11:46479480	T/C	AMBRA1	intron	1.000	1.08774	0.0143	3.986E-9		4
rs61882712	11:46483948	T/C	AMBRA1	intron	1.000	0.91943	0.0143	4.128E-9		6
rs61882715	11:46531798	A/G	AMBRA1	intron	0.907	0.89440	0.0305	0.0002588		7
rs61882716	11:46531807	A/T	AMBRA1	intron	0.924	0.89146	0.0307	0.0001796		7
rs61882719	11:46538942	A/G	AMBRA1	intron	0.959	0.93988	0.0121	2.699E-7		6
rs61882720	11:46538988	A/C	AMBRA1	intron	1.000	1.08709	0.0143	5.028E-9		7
rs61882721	11:46540288	T/G	AMBRA1	intron	0.924	0.89217	0.0306	0.0001904		6
rs61882722	11:46541220	T/C	AMBRA1	intron	0.924	1.12086	0.0306	0.0001908		4
rs61882743	11:46548754	C/G	AMBRA1	intron	1.000	0.91311	0.0141	1.257E-10		5
rs61882744	11:46550225	T/G	AMBRA1	intron	0.977	1.11829	0.0223	5.026E-7		5
rs61882746	11:46567475	T/C	AMBRA1	intron	1.000	1.09275	0.0142	3.773E-10		7
rs61882748	11:46578601	C/G	AMBRA1	intron	1.000	0.91842	0.0142	2.319E-9		6
rs61882750	11:46584227	T/G	AMBRA1	intron	1.000	0.91539	0.0142	4.403E-10		6
rs61882755	11:46609720	T/C	AMBRA1	intron	0.969	0.89333	0.0225	5.378E-7		5
rs61882756	11:46610283	T/C	AMBRA1	intron	0.974	1.08026	0.0143	6.471E-8		7
rs61882757	11:46611239	A/G	AMBRA1	intron	0.998	1.08578	0.0143	9.273E-9		7
rs61882758	11:46611805	A/G	AMBRA1	intron	1.000	0.91796	0.0142	1.649E-9		5
rs61999319	11:46456444	A/G	AMBRA1	coding-synon	0.624	0.86563	0.0481	0.002693		7
rs6485682	11:46446264	A/C	AMBRA1	intron	1.000	0.91594	0.0142	5.733E-10		7
rs68002803	11:46539110	T/C	AMBRA1	intron	0.979	0.94073	0.0115	1.091E-7		6
rs7112229	11:46513249	T/C	AMBRA1	intron	1.010	1.08676	0.0143	6.104E-9		5
rs7127529	11:46582072	A/C	AMBRA1	intron	1.000	0.91539	0.0142	4.29E-10		5
rs71474184	11:46585704	A/C	AMBRA1	intron	0.688	1.00803	0.0301	0.7904		6
rs71474185	11:46591436	A/G	AMBRA1	intron	0.791	1.06492	0.0288	0.02886		6
rs72910102	11:46445796	T/G	AMBRA1	intron	0.920	0.99273	0.0180	0.6828		6
rs72912138	11:46574459	A/T	AMBRA1	intron	0.767	0.97015	0.0306	0.3208		6
rs73449983	11:46612332	A/G	AMBRA1	intron	1.000	0.92081	0.0143	7.25E-9		5
rs73467947	11:46535961	T/C	AMBRA1	intron	0.602	1.02265	0.0506	0.6585		5
rs74775768	11:46561302	A/G	AMBRA1	intron	0.622	1.04091	0.0601	0.5046		7
rs75486765	11:46565495	C/G	AMBRA1	intron	0.689	0.91649	0.0387	0.02419		7
rs75494138	11:46465361	T/C	AMBRA1	intron	0.949	1.06014	0.0222	0.008469		5
rs75748389	11:46457259	C/G	AMBRA1	intron	1.000	0.91971	0.0143	4.394E-9		7
rs76018124	11:46482959	T/C	AMBRA1	intron	0.723	1.00702	0.0235	0.7645		4
rs76641616	11:46423903	A/G	AMBRA1	intron	0.951	1.01157	0.0362	0.7508		7
rs77161239	11:46454428	A/G	AMBRA1	intron	0.701	1.03376	0.0346	0.3375		7
rs77680372	11:46440337	A/G	AMBRA1	intron	0.707	1.07337	0.0682	0.2995		7
rs77814874	11:46476588	T/C	AMBRA1	intron	0.714	1.03241	0.0412	0.4377		6
rs77817298	11:46527652	A/G	AMBRA1	intron	0.859	0.97990	0.0575	0.7242		5
rs78271057	11:46488392	T/G	AMBRA1	intron	0.648	0.91539	0.0571	0.1216		7
rs78383566	11:46444743	A/G	AMBRA1	intron	0.617	1.03293	0.0602	0.5906		5
rs78522042	11:46457400	A/T	AMBRA1	intron	0.717	0.96802	0.0602	0.5895		5
rs78594871	11:46526853	A/G	AMBRA1	intron	0.713	1.02071	0.0442	0.6436		2a
rs78612907	11:46431703	C/G	AMBRA1	intron	0.716	0.97365	0.0231	0.2471		4
rs78807356	11:46596670	T/G	AMBRA1	intron	0.657	0.99541	0.0450	0.9191		5
rs79078082	11:46486059	A/G	AMBRA1	intron	0.996	0.91888	0.0190	8.453E-6		6
rs79203530	11:46601604	T/C	AMBRA1	intron	0.991	1.06844	0.0199	0.0008814		5
rs79221994	11:46419780	T/C	AMBRA1	intron	0.656	1.02644	0.0407	0.5213		5
rs79445785	11:46590943	T/C	AMBRA1	intron	0.984	1.08774	0.0147	1.114E-8		7
rs7949282	11:46522306	A/C	AMBRA1	intron	0.987	0.93969	0.0118	1.498E-7		5
rs79505812	11:46594382	A/G	AMBRA1	intron	0.605	1.05454	0.0635	0.4036		7
rs79565082	11:46567981	A/T	AMBRA1	intron	0.817	1.11260	0.0507	0.0354		6
rs80031726	11:46481259	T/C	AMBRA1	intron	1.000	0.91860	0.0143	2.802E-9		6
rs80179555	11:46582513	A/G	AMBRA1	intron	0.721	1.03603	0.0597	0.5527		4
rs901999	11:46426424	A/C	AMBRA1	intron	0.613	1.03314	0.0577	0.5717		5
SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*

Note: RegulomeDB score^*

score	supporting data	score	supporting data
1a	eQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak	6	other
2a	TF binding + matched TF motif + matched DNase Footprint + DNase peak	5	TF binding or DNase peak
1b	eQTL + TF binding + any motif + DNase Footprint + DNase peak	4	TF binding + DNase peak
2b	TF binding + any motif + DNase Footprint + DNase peak	3b	TF binding + matched TF motif
1c	eQTL + TF binding + matched TF motif + DNase peak	1f	eQTL + TF binding / DNase peak
2c	TF binding + matched TF motif + DNase peak	3a	TF binding + any motif + DNase peak
1d	eQTL + TF binding + any motif + DNase peak	1e	eQTL + TF binding + matched TF motif

CNV Information

The gene is not affected by CNV!

eQTL Information