SETD8

Basic Information

Gene Symbol	SETD8
Entrez Id	387893
Position	chr12:123868704..123893900
Description	SET domain containing (lysine methyltransferase) 8
Gene type	protein-coding

SNP Information

SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*
rs111937532	12:123893222	A/G	SETD8	untranslated-3	0.754	1.00361	0.0472	0.9385		5
rs111950701	12:123885758	T/C	SETD8	intron	0.908	0.96783	0.0239	0.1716		6
rs112196150	12:123885928	T/C	SETD8	intron	0.884	1.03624	0.0244	0.1453		7
rs112572079	12:123866709	A/G	SETD8	near-gene-5	0.863	0.94800	0.0348	0.1252		7
rs114675077	12:123882420	A/G	SETD8	intron	0.907	0.93389	0.0532	0.1985		6
rs115823069	12:123886822	T/C	SETD8	intron	0.896	1.07165	0.0531	0.1927		4
rs116448007	12:123878053	A/G	SETD8	intron	0.911	1.07476	0.0531	0.1749		6
rs116904769	12:123867183	T/C	SETD8	near-gene-5	0.663	1.03697	0.0328	0.269		7
rs13303208	12:123885917	A/G	SETD8	intron	0.902	0.93960	0.0118	1.195E-7		7
rs143196748	12:123890969	C/G	SETD8	intron	0.659	1.10816	0.0476	0.03087		-
rs144563725	12:123878221	A/G	SETD8	intron	0.648	1.00753	0.0435	0.8624		-
rs145423006	12:123882322	A/T	SETD8	intron	0.904	1.07208	0.0534	0.1928		-
rs146328428	12:123887525	A/G	SETD8	intron	0.895	1.07326	0.0530	0.1825		-
rs147353607	12:123893663	C/G	SETD8	untranslated-3	0.618	1.01410	0.0437	0.7493		-
rs147804629	12:123885966	A/G	SETD8	intron	0.896	0.92830	0.0532	0.1623		-
rs147935170	12:123882462	T/C	SETD8	intron	0.661	0.92914	0.0293	0.01217		-
rs16917496	12:123893830	T/C	SETD8	untranslated-3	0.855	0.93183	0.0122	7.006E-9		2b
rs182811425	12:123882718	A/C	SETD8	intron	0.759	0.93463	0.0350	0.05365		-
rs186822980	12:123874034	T/G	SETD8	intron,missense	0.651	1.02378	0.0217	0.2785		-
rs28372579	12:123881176	A/G	SETD8	intron	0.933	0.94346	0.0134	0.00001438		5
rs28377694	12:123884070	A/G	SETD8	intron	0.897	0.95753	0.0124	0.0004695		5
rs28406193	12:123891865	T/G	SETD8	intron	0.931	1.05908	0.0135	0.00001969		5
rs28410096	12:123880862	T/C	SETD8	intron	0.935	1.04071	0.0179	0.02553		6
rs28417583	12:123884536	A/G	SETD8	intron	0.945	0.88807	0.0256	3.578E-6		6
rs28435460	12:123867602	T/C	SETD8	near-gene-5	0.766	1.07584	0.0221	0.0009566		7
rs28472704	12:123887369	T/C	SETD8	intron	0.931	1.06099	0.0135	0.00001116		6
rs28475177	12:123872037	A/G	SETD8	intron,near-gene-5	0.940	1.03490	0.0235	0.144		5
rs28496545	12:123890893	T/C	SETD8	intron	0.921	0.93951	0.0118	1.173E-7		5
rs28501453	12:123877312	A/G	SETD8	intron	0.959	1.12829	0.0255	2.272E-6		7
rs28503862	12:123867106	T/C	SETD8	near-gene-5	0.956	0.96204	0.0177	0.02875		7
rs28508025	12:123893409	A/G	SETD8	untranslated-3	0.845	1.06855	0.0238	0.005306		2b
rs28509440	12:123886500	A/G	SETD8	intron	0.817	1.11684	0.0247	7.568E-6		6
rs28516750	12:123867994	A/G	SETD8	near-gene-5	0.900	0.96532	0.0175	0.04375		5
rs28532037	12:123883406	A/G	SETD8	intron	0.929	0.96108	0.0179	0.02659		5
rs28533432	12:123873242	T/C	SETD8	intron,near-gene-5	0.943	0.93716	0.0117	2.73E-8		4
rs28540654	12:123882944	A/G	SETD8	intron	0.907	1.07122	0.0532	0.196		2b
rs28546238	12:123882977	A/G	SETD8	intron	0.954	0.88665	0.0256	2.666E-6		2b
rs28547406	12:123882295	T/C	SETD8	intron	0.636	1.08502	0.0414	0.04899		7
rs28565984	12:123871632	C/G	SETD8	intron	0.829	0.96812	0.0174	0.06211		7
rs28573826	12:123875650	T/C	SETD8	intron	0.937	0.98206	0.0320	0.571		3a
rs28574664	12:123886384	T/C	SETD8	intron	0.898	0.93838	0.0117	5.337E-8		6
rs28576953	12:123890276	T/C	SETD8	intron	0.930	1.06035	0.0135	0.0000136		5
rs28581850	12:123871717	T/C	SETD8	intron,near-gene-5	0.950	1.03925	0.0177	0.0299		6
rs28587386	12:123883853	T/C	SETD8	intron	0.954	1.12457	0.0257	4.877E-6		5
rs28592032	12:123879445	T/C	SETD8	intron	0.944	0.96262	0.0178	0.03196		5
rs28613486	12:123867268	T/C	SETD8	near-gene-5	0.974	1.12806	0.0255	2.218E-6		5
rs28636834	12:123871070	A/C	SETD8	intron	0.948	0.93819	0.0134	1.887E-6		6
rs28637945	12:123880120	T/G	SETD8	intron	0.606	1.02041	0.0149	0.1761		5
rs28642812	12:123893910	T/C	SETD8	near-gene-3	0.914	1.07498	0.0120	1.545E-9		3a
rs28655516	12:123879975	T/C	SETD8	intron	0.934	1.03510	0.0236	0.1428		6
rs28660993	12:123875394	T/C	SETD8	intron	0.787	0.96570	0.0163	0.0316		4
rs28681105	12:123875525	T/C	SETD8	intron	0.961	1.12829	0.0255	2.228E-6		3a
rs28690326	12:123887687	T/C	SETD8	intron	0.880	0.94327	0.0118	7.809E-7		7
rs28694725	12:123893645	T/C	SETD8	untranslated-3	0.865	1.10252	0.0567	0.08526		4
rs28698461	12:123881928	A/G	SETD8	intron	0.850	1.05633	0.0352	0.119		4
rs28768122	12:123885974	T/C	SETD8	intron	0.897	1.07498	0.0124	5.859E-9		6
rs28820735	12:123878507	T/C	SETD8	intron	0.945	0.96271	0.0178	0.03232		5
rs28825193	12:123878262	T/C	SETD8	intron	0.941	1.06418	0.0115	6.954E-8		6
rs28828722	12:123884772	T/C	SETD8	intron	0.828	0.94639	0.0351	0.1164		7
rs28836481	12:123884977	A/G	SETD8	intron	0.767	0.94337	0.0339	0.08591		7
rs28855757	12:123885937	T/C	SETD8	intron	0.925	1.06120	0.0134	9.763E-6		7
rs28861152	12:123886019	A/C	SETD8	intron	0.902	1.03541	0.0239	0.1448		6
rs28862317	12:123885968	A/T	SETD8	intron	0.813	1.10938	0.0245	0.0000229		6
rs28866344	12:123885484	A/G	SETD8	intron	0.917	1.03956	0.0179	0.03058		7
rs28888731	12:123885734	T/C	SETD8	intron	0.683	1.08448	0.0224	0.0003033		6
rs3881293	12:123892628	A/T	SETD8	untranslated-3	0.831	0.94705	0.0361	0.1311		4
rs61953483	12:123894303	T/C	SETD8	near-gene-3	0.877	1.02041	0.0355	0.5684		7
rs61955125	12:123891107	T/C	SETD8	intron	0.912	0.94064	0.0118	2.086E-7		7
rs6576	12:123892934	T/G	SETD8	untranslated-3	0.862	0.94365	0.0134	0.00001406		4
rs73216930	12:123890221	A/G	SETD8	intron	0.834	0.94772	0.0359	0.1354		5
rs73216931	12:123891209	T/C	SETD8	intron	0.924	0.93913	0.0116	6.68E-8		7
rs73216932	12:123893322	T/C	SETD8	untranslated-3	0.828	0.94819	0.0360	0.1396		5
rs76790152	12:123867239	C/G	SETD8	near-gene-5	0.918	0.93100	0.0528	0.1759		5
rs76801833	12:123874937	T/C	SETD8	intron	0.912	1.07552	0.0531	0.1704		5
rs78124268	12:123891852	C/G	SETD8	intron	0.934	0.88612	0.0258	2.814E-6		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

Reference	Study type	Sample size
23505263	GWAS	8 index-cases from 8 families
Reference	Study type	Sample size

eQTL Information