Variant report

Variant	rs12314795
Chromosome Location	chr12:50147864-50147865
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	ELK1	chr12:50147496-50148073	GM12878	blood:	n/a	n/a
2	SPI1	chr12:50147684-50148109	GM12891	blood:	n/a	n/a
3	FOS	chr12:50147631-50147946	MCF10A-Er-Src	breast:	n/a	n/a
4	NFIC	chr12:50147459-50148029	GM12878	blood:	n/a	n/a
5	PAX5	chr12:50147600-50147873	GM12892	blood:	n/a	chr12:50147731-50147750
6	MAFK	chr12:50147583-50147941	IMR90	lung:	n/a	n/a
7	MXI1	chr12:50147553-50148097	GM12878	blood:	n/a	n/a
8	RUNX3	chr12:50147552-50148235	GM12878	blood:	n/a	n/a
9	EBF1	chr12:50147575-50148094	GM12878	blood:	n/a	n/a
10	RCOR1	chr12:50147537-50148165	GM12878	blood:	n/a	n/a
11	TBL1XR1	chr12:50147559-50147962	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:50147549-50148335	U87	brain:	n/a	n/a
13	SPI1	chr12:50147700-50148019	GM12878	blood:	n/a	n/a
14	PML	chr12:50147519-50148394	GM12878	blood:	n/a	n/a
15	PAX5	chr12:50147644-50147876	GM12878	blood:	n/a	chr12:50147731-50147750
16	CEBPB	chr12:50147622-50147977	IMR90	lung:	n/a	n/a
17	FOXM1	chr12:50147621-50148054	GM12878	blood:	n/a	n/a
18	SPI1	chr12:50147664-50148076	GM12878	blood:	n/a	n/a
19	EP300	chr12:50147626-50147986	GM12878	blood:	n/a	n/a
20	BCL11A	chr12:50147681-50147994	GM12878	blood:	n/a	n/a
21	BHLHE40	chr12:50147698-50148042	GM12878	blood:	n/a	n/a
22	NFATC1	chr12:50147588-50148076	GM12878	blood:	n/a	n/a
23	MAZ	chr12:50147752-50147897	GM12878	blood:	n/a	n/a
24	SPI1	chr12:50147547-50148217	GM12878	blood:	n/a	n/a
25	MAX	chr12:50147691-50148130	GM12878	blood:	n/a	n/a
26	MTA3	chr12:50147550-50148238	GM12878	blood:	n/a	n/a
27	CUX1	chr12:50147269-50148122	GM12878	blood:	n/a	n/a
28	PAX5	chr12:50147577-50148000	GM12878	blood:	n/a	chr12:50147731-50147750
29	PAX5	chr12:50147598-50148082	GM12878	blood:	n/a	chr12:50147731-50147750
30	STAT1	chr12:50147746-50147894	GM12878	blood:	n/a	n/a
31	CHD1	chr12:50147758-50148145	GM12878	blood:	n/a	n/a
32	WRNIP1	chr12:50147730-50148097	GM12878	blood:	n/a	n/a
33	ATF2	chr12:50147535-50148131	GM12878	blood:	n/a	n/a
34	FOS	chr12:50147647-50147944	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr12:50147394-50147938	GM12878	blood:	n/a	n/a
36	RUNX3	chr12:50147584-50148194	GM12878	blood:	n/a	n/a
37	FOS	chr12:50147650-50147924	MCF10A-Er-Src	breast:	n/a	n/a
38	EP300	chr12:50147607-50148060	GM12878	blood:	n/a	n/a
39	ZNF384	chr12:50147450-50148068	GM12878	blood:	n/a	n/a
40	SPI1	chr12:50147655-50148130	GM12891	blood:	n/a	n/a
41	STAT3	chr12:50147809-50148246	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:50147863-50148038	Hela-S3	cervix:	n/a	n/a
43	SIN3A	chr12:50147720-50147934	GM12878	blood:	n/a	n/a
44	IRF4	chr12:50147672-50148065	GM12878	blood:	n/a	n/a
45	BATF	chr12:50147651-50147956	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:50146396-50148700	K562	blood:	n/a	n/a
47	FOS	chr12:50147675-50147883	MCF10A-Er-Src	breast:	n/a	n/a
48	PAX5	chr12:50147567-50148133	GM12878	blood:	n/a	chr12:50147731-50147750
49	ATF2	chr12:50147486-50147971	GM12878	blood:	n/a	n/a
50	CHD2	chr12:50147674-50148152	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50146790..50149576-chr12:50162181..50164757,2	K562	blood:

Variant related genes	Relation type
TMBIM6	TF binding region
ENSG00000257730	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10219602	1.00[CHB][hapmap]
rs1049986	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10506287	1.00[CEU][hapmap]
rs10506288	1.00[CEU][hapmap]
rs1078216	1.00[CHB][hapmap]
rs10875964	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875968	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169069	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs11169070	0.84[AMR][1000 genomes]
rs11169073	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169076	0.87[CEU][hapmap];0.80[YRI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169081	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169082	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169092	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169097	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169101	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169104	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169109	0.85[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169111	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169112	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169113	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11169118	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169125	1.00[CEU][hapmap];0.84[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11169127	1.00[CEU][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169128	1.00[CHB][hapmap]
rs11169130	1.00[CHB][hapmap]
rs11169133	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169140	0.89[AMR][1000 genomes]
rs11169143	1.00[CEU][hapmap]
rs11615488	0.92[ASN][1000 genomes]
rs11830696	1.00[CEU][hapmap]
rs11833411	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11834380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12299513	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12301824	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12303310	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304796	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12305460	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12306114	1.00[CHB][hapmap]
rs12306430	1.00[CEU][hapmap]
rs12306481	1.00[CEU][hapmap]
rs12307828	1.00[CEU][hapmap]
rs12308256	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12309940	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310510	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311839	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12313353	1.00[CEU][hapmap]
rs12314878	0.83[ASN][1000 genomes]
rs12315224	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315791	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316284	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12317646	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320556	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12321169	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12321819	0.83[ASN][1000 genomes]
rs13066	0.87[CEU][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1317131	1.00[CEU][hapmap]
rs13906	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.83[ASN][1000 genomes]
rs1470906	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574326	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123808	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17123927	1.00[CEU][hapmap]
rs17123970	1.00[CEU][hapmap]
rs17123981	1.00[CHB][hapmap]
rs1993398	1.00[CEU][hapmap]
rs2005195	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2241418	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278068	0.83[ASN][1000 genomes]
rs2278069	0.83[ASN][1000 genomes]
rs2278070	0.80[ASN][1000 genomes]
rs2303305	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2336058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878532	0.85[AMR][1000 genomes]
rs35275181	1.00[CHB][hapmap]
rs3815832	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3887728	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4045193	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4133070	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584654	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4641552	1.00[CEU][hapmap]
rs52824916	0.80[ASN][1000 genomes]
rs55853522	0.83[ASN][1000 genomes]
rs57191490	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57342147	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57463238	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57916875	0.80[ASN][1000 genomes]
rs58278271	0.86[ASN][1000 genomes]
rs58446833	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59233136	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59849800	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59940006	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60121503	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60402517	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61512987	0.81[AMR][1000 genomes]
rs61616163	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61620972	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61710637	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580719	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131915	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7136052	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136772	1.00[CHB][hapmap]
rs7137976	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296281	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7299002	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301209	0.83[ASN][1000 genomes]
rs7306877	0.83[ASN][1000 genomes]
rs7309607	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7312658	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7313738	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305008	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73305012	0.83[ASN][1000 genomes]
rs73305085	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73305098	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73306808	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309030	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74089182	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7688	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953412	1.00[CEU][hapmap]
rs7953911	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7954994	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955586	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7956089	1.00[CHB][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956181	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962863	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7963954	0.89[ASN][1000 genomes]
rs7965658	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7967624	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7968302	1.00[CEU][hapmap]
rs7970241	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7970674	0.86[CEU][hapmap]
rs7973389	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7975599	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7977389	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7979262	1.00[CEU][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980979	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876889	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs897056	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9804749	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804971	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50137200-50152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:50137400-50150800	Weak transcription	Fetal Brain Male	brain
3	chr12:50142200-50148200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:50144000-50151600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:50144200-50148800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:50144600-50148000	Weak transcription	Right Atrium	heart
7	chr12:50144800-50148000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:50145000-50156000	Strong transcription	Dnd41	blood
9	chr12:50145000-50157000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:50145000-50159200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:50145200-50149600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:50145200-50149600	Strong transcription	Hela-S3	cervix
13	chr12:50145200-50149600	Strong transcription	K562	blood
14	chr12:50145200-50149600	Strong transcription	NHEK	skin
15	chr12:50145600-50149800	Strong transcription	HepG2	liver
16	chr12:50145800-50159200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:50146000-50148000	Genic enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:50146000-50148800	Genic enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:50146000-50149600	Genic enhancers	Liver	Liver
20	chr12:50146000-50151000	Weak transcription	Stomach Mucosa	stomach
21	chr12:50146000-50157000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr12:50146000-50159000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:50146000-50159000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:50146000-50159000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:50146200-50148200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:50146200-50148200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr12:50146200-50148200	Genic enhancers	Duodenum Mucosa	Duodenum
28	chr12:50146200-50148400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:50146200-50148400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr12:50146200-50149600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:50146200-50149600	Strong transcription	Fetal Kidney	kidney
32	chr12:50146200-50149600	Strong transcription	A549	lung
33	chr12:50146200-50150200	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr12:50146200-50154200	Strong transcription	Fetal Thymus	thymus
35	chr12:50146200-50155200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:50146200-50155800	Strong transcription	Primary T cells from cord blood	blood
37	chr12:50146200-50156000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr12:50146200-50156200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:50146200-50159000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:50146200-50159000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:50146200-50159000	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr12:50146200-50159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:50146200-50159200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:50146200-50159200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:50146200-50159200	Strong transcription	Placenta	Placenta
46	chr12:50146400-50148200	Genic enhancers	HSMM	muscle
47	chr12:50146400-50148400	Genic enhancers	Osteobl	bone
48	chr12:50146400-50148800	Genic enhancers	Primary B cells from cord blood	blood
49	chr12:50146400-50155000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:50146400-50155000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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