Variant report

Variant	rs12310510
Chromosome Location	chr12:50066244-50066245
allele	C/T
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	WRNIP1	chr12:50066221-50066370	GM12878	blood:	n/a	n/a
2	IRF1	chr12:50066166-50066315	K562	blood:	n/a	chr12:50066176-50066187 chr12:50066175-50066186
3	RELA	chr12:50064647-50067064	GM12891	blood:	n/a	chr12:50065248-50065257 chr12:50065246-50065255 chr12:50065248-50065257 chr12:50065246-50065255
4	FOXM1	chr12:50066107-50067143	GM12878	blood:	n/a	n/a
5	RELA	chr12:50066189-50066897	GM15510	blood:	n/a	n/a
6	RELA	chr12:50064419-50067389	GM19193	blood:	n/a	chr12:50065248-50065257 chr12:50065246-50065255 chr12:50065248-50065257 chr12:50065246-50065255
7	RELA	chr12:50066122-50067433	GM18951	blood:	n/a	n/a
8	MTA3	chr12:50065848-50067551	GM12878	blood:	n/a	n/a
9	NFATC1	chr12:50066176-50066843	GM12878	blood:	n/a	n/a
10	RELA	chr12:50064591-50067007	GM19099	blood:	n/a	chr12:50065248-50065257 chr12:50065246-50065255 chr12:50065248-50065257 chr12:50065246-50065255
11	EP300	chr12:50065325-50066672	GM12878	blood:	n/a	chr12:50065885-50065892
12	RELA	chr12:50066142-50067148	GM18505	blood:	n/a	n/a
13	NFIC	chr12:50065810-50066903	GM12878	blood:	n/a	n/a
14	RUNX3	chr12:50066240-50067351	GM12878	blood:	n/a	n/a
15	RELA	chr12:50066105-50067173	GM12878	blood:	n/a	n/a
16	STAT5A	chr12:50065442-50066344	GM12878	blood:	n/a	n/a
17	IKZF1	chr12:50065978-50066931	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50065718..50069326-chr12:50125302..50127957,3	K562	blood:
2	chr12:50050102..50052807-chr12:50065417..50067825,2	K562	blood:
3	chr12:50062633..50068951-chr12:50134385..50140154,8	K562	blood:
4	chr12:50059879..50062225-chr12:50063774..50067547,4	K562	blood:
5	chr12:50064210..50067102-chr12:50135101..50137236,3	K562	blood:
6	chr12:50054963..50057045-chr12:50065991..50068572,3	K562	blood:
7	chr12:50016535..50018168-chr12:50064664..50066809,2	K562	blood:
8	chr12:50066175..50068343-chr12:50098186..50100084,3	K562	blood:
9	chr12:50058474..50062820-chr12:50063991..50067805,5	MCF-7	breast:
10	chr12:50066009..50068301-chr12:50069038..50071401,2	K562	blood:
11	chr12:50065969..50068241-chr12:50076218..50078635,2	K562	blood:
12	chr12:50048532..50051602-chr12:50065327..50069233,3	K562	blood:

Variant related genes	Relation type
FMNL3	TF binding region
ENSG00000110844	Chromatin interaction
ENSG00000161791	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 157 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs10219602	1.00[CHB][hapmap]
rs1049986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10506287	0.86[CEU][hapmap]
rs10506288	0.86[CEU][hapmap]
rs1078216	1.00[CHB][hapmap]
rs10875964	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875968	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169063	0.85[JPT][hapmap]
rs11169065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes]
rs11169069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169070	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169076	1.00[CEU][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169080	0.85[JPT][hapmap]
rs11169081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169101	0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169104	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169109	0.87[CEU][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169111	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169112	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169113	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11169118	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169125	1.00[CEU][hapmap];0.97[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11169127	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169128	1.00[CHB][hapmap]
rs11169130	1.00[CHB][hapmap]
rs11169133	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169140	0.85[AMR][1000 genomes]
rs11169143	0.85[CEU][hapmap]
rs1150057	0.85[JPT][hapmap]
rs11615488	0.92[ASN][1000 genomes]
rs11833411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11834380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296586	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12299513	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12301824	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12303310	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304796	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12305460	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12306114	1.00[CHB][hapmap]
rs12306430	0.86[CEU][hapmap]
rs12306481	0.86[CEU][hapmap]
rs12307828	0.87[CEU][hapmap]
rs12308256	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12309940	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12311839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12313353	0.87[CEU][hapmap]
rs12314795	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]
rs12314878	0.83[ASN][1000 genomes]
rs12315224	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315791	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316284	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12317646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320556	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12321169	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12321819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13066	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1317131	0.86[CEU][hapmap]
rs13906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[ASN][1000 genomes]
rs1470906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17123927	0.86[CEU][hapmap]
rs17123970	0.86[CEU][hapmap]
rs17123981	1.00[CHB][hapmap]
rs1902329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1902330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1993398	0.87[CEU][hapmap]
rs2005195	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2241418	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278070	0.80[ASN][1000 genomes]
rs2303305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2336058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878532	0.85[JPT][hapmap];0.89[AMR][1000 genomes]
rs35275181	1.00[CHB][hapmap]
rs3815832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3887727	0.85[JPT][hapmap]
rs3887728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4045193	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4073998	0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs4133070	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4641552	0.86[CEU][hapmap]
rs4993294	1.00[CHB][hapmap]
rs52824916	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs55853522	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57191490	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57342147	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57463238	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57916875	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs58278271	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58446833	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59233136	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59849800	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59940006	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60121503	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60402517	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61512987	0.85[AMR][1000 genomes]
rs61616163	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61620972	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61710637	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7132792	1.00[JPT][hapmap]
rs7136052	0.92[AFR][1000 genomes];0.95[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];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7299002	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7306877	0.83[ASN][1000 genomes]
rs7309607	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7312658	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7313738	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305008	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73305012	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73305085	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73305098	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73306808	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309030	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74089182	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953412	0.87[CEU][hapmap]
rs7953911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7954994	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955586	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7956089	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956181	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962645	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962863	0.85[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7963954	0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs7965658	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7967624	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7968302	0.86[CEU][hapmap]
rs7970241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7973389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7975599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7977389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979262	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980979	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8626	0.85[JPT][hapmap];0.83[YRI][hapmap]
rs876889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs897056	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9804749	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804971	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	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
3	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50042400-50067000	Weak transcription	Fetal Brain Male	brain
2	chr12:50052600-50067000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:50052600-50067400	Weak transcription	Fetal Brain Female	brain
4	chr12:50054400-50069800	Enhancers	Left Ventricle	heart
5	chr12:50057600-50066400	Weak transcription	Aorta	Aorta
6	chr12:50057600-50066800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:50057600-50067000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:50057600-50067000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:50057600-50067200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:50058400-50067200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:50060000-50066600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:50060400-50069400	Enhancers	Fetal Thymus	thymus
13	chr12:50062000-50069600	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:50062200-50067000	Enhancers	Brain Anterior Caudate	brain
15	chr12:50063000-50066400	Enhancers	Brain Angular Gyrus	brain
16	chr12:50063200-50066400	Enhancers	Brain Cingulate Gyrus	brain
17	chr12:50063200-50066800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:50063200-50069200	Enhancers	Thymus	Thymus
19	chr12:50063200-50069400	Enhancers	Lung	lung
20	chr12:50063200-50069800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:50063400-50068200	Enhancers	Spleen	Spleen
22	chr12:50063600-50069200	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:50063600-50069400	Enhancers	Right Atrium	heart
24	chr12:50063800-50066800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr12:50063800-50069400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:50063800-50069400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:50063800-50069400	Enhancers	Right Ventricle	heart
28	chr12:50063800-50070000	Enhancers	Psoas Muscle	Psoas
29	chr12:50063800-50070200	Enhancers	Ovary	ovary
30	chr12:50063800-50070600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:50063800-50070600	Enhancers	Fetal Lung	lung
32	chr12:50064000-50067200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr12:50064200-50066800	Enhancers	Brain Hippocampus Middle	brain
34	chr12:50064200-50068000	Enhancers	Liver	Liver
35	chr12:50064200-50068400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr12:50064200-50068600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:50064200-50070000	Enhancers	Fetal Muscle Leg	muscle
38	chr12:50064400-50066600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:50064400-50067000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr12:50064400-50067400	Enhancers	Gastric	stomach
41	chr12:50064400-50067600	Enhancers	HSMMtube	muscle
42	chr12:50064400-50069400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:50064400-50069400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:50064400-50069400	Enhancers	Stomach Mucosa	stomach
45	chr12:50064400-50069600	Enhancers	Placenta	Placenta
46	chr12:50064600-50066400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:50064600-50066600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr12:50064600-50067000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:50064600-50067000	Enhancers	K562	blood
50	chr12:50064600-50069000	Enhancers	NH-A	brain

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