Variant report

Variant	rs10219339
Chromosome Location	chr11:75484850-75484851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr11:75484685-75484916	GM12878	blood:	n/a	n/a
2	STAT3	chr11:75484765-75484982	MCF10A-Er-Src	breast:	n/a	chr11:75484902-75484913
3	RELA	chr11:75484020-75485197	GM18951	blood:	n/a	n/a
4	MAFK	chr11:75484639-75485000	K562	blood:	n/a	n/a
5	TCF12	chr11:75484578-75484954	GM12878	blood:	n/a	n/a
6	CHD1	chr11:75484537-75485039	GM12878	blood:	n/a	n/a
7	EBF1	chr11:75484551-75484992	GM12878	blood:	n/a	n/a
8	FOXM1	chr11:75484409-75485167	GM12878	blood:	n/a	n/a
9	EP300	chr11:75484545-75485022	GM12878	blood:	n/a	n/a
10	STAT3	chr11:75484540-75485097	GM12878	blood:	n/a	chr11:75484902-75484913 chr11:75485018-75485030
11	ZNF143	chr11:75484575-75485153	GM12878	blood:	n/a	n/a
12	JUND	chr11:75484520-75485355	GM12878	blood:	n/a	n/a
13	CBX3	chr11:75484584-75484980	K562	blood:	n/a	n/a
14	FOXM1	chr11:75484500-75485148	GM12878	blood:	n/a	n/a
15	MAZ	chr11:75484615-75485012	GM12878	blood:	n/a	n/a
16	EBF1	chr11:75484044-75485041	GM12878	blood:	n/a	chr11:75484492-75484501 chr11:75484320-75484331
17	MTA3	chr11:75483828-75485240	GM12878	blood:	n/a	n/a
18	ZNF143	chr11:75484646-75485055	K562	blood:	n/a	n/a
19	RELA	chr11:75484562-75485073	GM10847	blood:	n/a	n/a
20	SPI1	chr11:75484641-75484900	K562	blood:	n/a	chr11:75484780-75484793 chr11:75484786-75484795
21	CUX1	chr11:75484618-75485131	GM12878	blood:	n/a	n/a
22	RUNX3	chr11:75484088-75485119	GM12878	blood:	n/a	n/a
23	SPI1	chr11:75484018-75485354	GM12878	blood:	n/a	chr11:75484780-75484793 chr11:75484786-75484795 chr11:75484484-75484497 chr11:75484487-75484494
24	TBP	chr11:75484622-75485029	GM12878	blood:	n/a	n/a
25	ATF2	chr11:75484542-75485059	GM12878	blood:	n/a	n/a
26	REST	chr11:75484583-75484974	Hela-S3	cervix:	n/a	chr11:75484747-75484755 chr11:75484766-75484779
27	SP1	chr11:75484555-75485092	GM12878	blood:	n/a	n/a
28	NRF1	chr11:75484736-75485146	GM12878	blood:	n/a	n/a
29	YY1	chr11:75484588-75484944	GM12878	blood:	n/a	n/a
30	STAT3	chr11:75484784-75484984	MCF10A-Er-Src	breast:	n/a	chr11:75484902-75484913
31	TEAD4	chr11:75484695-75485105	K562	blood:	n/a	n/a
32	BCL11A	chr11:75484543-75485045	GM12878	blood:	n/a	chr11:75484786-75484795
33	MAX	chr11:75484496-75485033	GM12878	blood:	n/a	n/a
34	IRF4	chr11:75484467-75485103	GM12878	blood:	n/a	n/a
35	ELF1	chr11:75484581-75485038	K562	blood:	n/a	chr11:75484779-75484792 chr11:75484780-75484791
36	BCL11A	chr11:75484593-75484972	GM12878	blood:	n/a	chr11:75484786-75484795
37	RELA	chr11:75484004-75485053	GM18505	blood:	n/a	n/a
38	MXI1	chr11:75484589-75485061	GM12878	blood:	n/a	n/a
39	EP300	chr11:75484596-75485019	GM12878	blood:	n/a	n/a
40	PAX5	chr11:75484610-75484997	GM12878	blood:	n/a	chr11:75484786-75484795
41	RELA	chr11:75484499-75485083	GM15510	blood:	n/a	n/a
42	YY1	chr11:75484609-75484945	GM12891	blood:	n/a	n/a
43	WRNIP1	chr11:75484622-75485167	GM12878	blood:	n/a	n/a
44	YY1	chr11:75484549-75484980	GM12892	blood:	n/a	n/a
45	SPI1	chr11:75484624-75484935	K562	blood:	n/a	chr11:75484780-75484793 chr11:75484786-75484795
46	IRF4	chr11:75484459-75485173	GM12878	blood:	n/a	n/a
47	RELA	chr11:75484049-75485047	GM19099	blood:	n/a	n/a
48	RCOR1	chr11:75484362-75485159	GM12878	blood:	n/a	n/a
49	PAX5	chr11:75484551-75485048	GM12878	blood:	n/a	chr11:75484786-75484795
50	RUNX3	chr11:75484162-75485162	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75481614..75484902-chr11:75487270..75489569,3	K562	blood:
2	chr11:75482948..75485726-chr11:75491815..75493587,2	K562	blood:
3	chr11:75479733..75481586-chr11:75483249..75484931,2	K562	blood:
4	chr11:75479282..75481785-chr11:75482674..75485618,3	MCF-7	breast:
5	chr11:75479943..75481752-chr11:75484660..75487387,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MOGAT2-3	chr11:75484767-75485087	NONHSAT023128

Variant related genes	Relation type
ENSG00000254826	TF binding region
ENSG00000247867	Chromatin interaction
ENSG00000062282	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10160802	0.90[CEU][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes]
rs1017713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793124	0.84[ASW][hapmap];0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10793125	0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10793126	0.88[ASN][1000 genomes]
rs10793127	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10793128	0.86[AMR][1000 genomes]
rs10793129	0.84[AMR][1000 genomes]
rs10793130	0.82[AMR][1000 genomes]
rs10793132	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793133	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793135	1.00[CEU][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10899105	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10899109	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10899110	0.81[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10899112	0.87[AMR][1000 genomes]
rs10899113	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899114	0.90[CEU][hapmap]
rs10899115	0.83[AMR][1000 genomes]
rs10899116	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899118	1.00[CEU][hapmap];0.90[TSI][hapmap];0.95[EUR][1000 genomes]
rs10899119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899120	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899124	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899127	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899128	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899129	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899131	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899132	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899133	0.97[ASN][1000 genomes]
rs10899134	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899135	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899136	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899137	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899138	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899139	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899140	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899141	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899142	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899144	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899145	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236507	0.80[ASN][1000 genomes]
rs11236508	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11236509	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11236511	0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11236514	0.92[ASW][hapmap];0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236515	0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236516	0.83[ASW][hapmap];0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236517	0.92[ASW][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11236518	1.00[ASW][hapmap];0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236519	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11236525	0.84[AMR][1000 genomes]
rs11236527	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11236528	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11236530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236531	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236533	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236537	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236538	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236539	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236540	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236542	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236543	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236545	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236546	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236549	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236551	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236552	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236553	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236554	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236555	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11236564	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11501918	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11821808	0.88[ASN][1000 genomes]
rs11822903	0.88[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11823869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222995	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223234	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12224062	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12278224	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12278257	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12280456	0.90[CEU][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs12280464	0.90[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.82[MEX][hapmap]
rs12285853	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1458836	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17134394	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2004638	0.90[CEU][hapmap]
rs2008476	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2168947	1.00[CEU][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs28802056	0.80[AMR][1000 genomes]
rs3060	1.00[CEU][hapmap];0.84[MEX][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3740849	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3740850	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs531117	0.81[CHB][hapmap]
rs58340821	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58411334	0.94[ASN][1000 genomes]
rs60677263	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60692776	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs643884	0.81[CHB][hapmap]
rs644361	0.81[CHB][hapmap]
rs6592615	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66784596	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67233017	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67268976	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7101806	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7106736	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7107742	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7108178	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7110517	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7118039	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7118293	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7118569	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7122123	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7126727	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7128716	0.88[CEU][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72995678	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72997616	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72997623	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72997677	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7933235	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7937642	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7944950	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947418	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7947512	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10219339	RP11-535A19.1	cis	Whole Blood	GTEx
rs10219339	DGAT2	cis	Whole Blood	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75480600-75488600	Weak transcription	Gastric	stomach
2	chr11:75480600-75491200	Weak transcription	Pancreas	Pancrea
3	chr11:75480600-75491400	Weak transcription	Right Ventricle	heart
4	chr11:75480600-75496400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:75480800-75485800	Weak transcription	Right Atrium	heart
6	chr11:75480800-75486800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:75481000-75491600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:75481000-75506600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:75481400-75493800	Weak transcription	Stomach Mucosa	stomach
10	chr11:75481800-75500800	Weak transcription	Esophagus	oesophagus
11	chr11:75482200-75485600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:75482400-75485400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:75482400-75490200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:75482600-75485400	Enhancers	Spleen	Spleen
15	chr11:75482800-75485600	Weak transcription	Fetal Intestine Large	intestine
16	chr11:75483000-75485200	Enhancers	K562	blood
17	chr11:75483000-75486800	Enhancers	Primary B cells from peripheral blood	blood
18	chr11:75483000-75494200	Strong transcription	Fetal Intestine Small	intestine
19	chr11:75483000-75494800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:75483200-75488200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:75483200-75488400	Weak transcription	HMEC	breast
22	chr11:75483400-75485600	Weak transcription	Lung	lung
23	chr11:75483400-75485800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:75484000-75485400	Flanking Active TSS	GM12878-XiMat	blood
25	chr11:75484200-75485400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:75484200-75486000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:75484200-75486000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr11:75484400-75485600	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr11:75484400-75488600	Weak transcription	Fetal Thymus	thymus
30	chr11:75484400-75489600	Genic enhancers	Liver	Liver
31	chr11:75484600-75485000	Enhancers	Adipose Nuclei	Adipose
32	chr11:75484600-75485200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:75484600-75485800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:75484600-75489600	Strong transcription	HepG2	liver
35	chr11:75484800-75485000	Enhancers	Primary hematopoietic stem cells	blood
36	chr11:75484800-75485000	Enhancers	HUVEC	blood vessel
37	chr11:75484800-75503800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links