SF3B1

Basic Information

Gene Symbol	SF3B1
Entrez Id	23451
Position	chr2:198256698..198299771
Description	splicing factor 3b, subunit 1, 155kDa
Gene type	protein-coding

SNP Information

SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*
rs112865313	2:198272710	T/C	SF3B1	intron	0.869	1.04029	0.0481	0.4111		7
rs115171667	2:198259351	T/C	SF3B1	intron	0.897	1.01603	0.0318	0.6173		6
rs12151726	2:198273591	T/C	SF3B1	intron	0.979	0.94696	0.0107	3.864E-7		5
rs12151767	2:198274929	A/G	SF3B1	intron	0.996	0.94384	0.0106	5.047E-8		6
rs12621129	2:198265350	T/C	SF3B1	intron	0.992	0.93016	0.0112	1.002E-10		6
rs139193412	2:198287773	T/C	SF3B1	intron	0.721	1.09428	0.0704	0.2006		-
rs141983683	2:198294246	A/G	SF3B1	intron	0.928	0.89181	0.0584	0.04974		-
rs16865262	2:198263146	T/C	SF3B1	intron	1.000	1.01005	0.0127	0.4301		6
rs16865650	2:198297156	T/C	SF3B1	intron	1.000	0.98797	0.0136	0.3725		5
rs181470131	2:198276312	T/C	SF3B1	intron	0.635	1.12098	0.0605	0.05921		-
rs183780292	2:198292526	T/C	SF3B1	intron	0.844	0.95619	0.0373	0.2297		-
rs186501059	2:198277069	A/T	SF3B1	intron	0.651	1.03852	0.0346	0.2748		-
rs2244271	2:198286581	T/C	SF3B1	intron	0.998	0.93062	0.0111	1.154E-10		7
rs2333852	2:198258969	T/C	SF3B1	intron	1.000	0.98876	0.0136	0.4053		7
rs2564389	2:198260098	A/T	SF3B1	intron	0.992	1.07219	0.0112	5.017E-10		6
rs2565160	2:198286474	A/G	SF3B1	intron	0.999	1.07498	0.0111	8.801E-11		7
rs2565161	2:198285554	C/G	SF3B1	intron	0.999	1.07498	0.0111	8.853E-11		6
rs3097384	2:198278834	A/T	SF3B1	intron	0.999	0.93007	0.0111	7.882E-11		6
rs3115366	2:198258388	A/G	SF3B1	intron	0.987	0.94356	0.0106	4.627E-8		7
rs35157131	2:198277498	T/C	SF3B1	intron	0.993	1.07595	0.0111	4.971E-11		7
rs35572702	2:198259625	T/C	SF3B1	intron	0.714	0.85206	0.0427	0.0001785		6
rs3849361	2:198288826	T/C	SF3B1	intron	0.862	1.03345	0.0375	0.3801		6
rs4685	2:198257795	T/C	SF3B1	coding-synon,near-gene-3	0.983	1.07573	0.0112	8.199E-11		1f
rs58020244	2:198288002	A/T	SF3B1	intron	0.999	0.99511	0.0139	0.7244		6
rs6710530	2:198277551	A/G	SF3B1	intron	0.999	0.93007	0.0111	7.887E-11		7
rs72912894	2:198263069	A/G	SF3B1	intron	0.637	0.90348	0.0353	0.004033		7
rs74265000	2:198259352	A/G	SF3B1	intron	1.000	0.98876	0.0136	0.4036		6
rs75406274	2:198266063	A/G	SF3B1	intron	0.936	1.12221	0.0583	0.04809		7
rs75537447	2:198271881	A/G	SF3B1	intron	0.936	0.89110	0.0583	0.04811		7
rs76204729	2:198296118	A/C	SF3B1	intron	1.000	1.01177	0.0136	0.3876		6
rs76399200	2:198263145	A/G	SF3B1	intron	0.945	1.15258	0.0576	0.01373		7
rs77132083	2:198273347	T/C	SF3B1	intron	0.999	1.00521	0.0139	0.705		6
rs78516934	2:198257075	A/G	SF3B1	coding-synon	0.656	0.92608	0.0605	0.2047		7
rs80144901	2:198275089	T/C	SF3B1	intron	0.925	1.11963	0.0580	0.05136		7
rs80353059	2:198295647	A/C	SF3B1	intron	0.743	1.07004	0.0283	0.01688		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