Variant report

Variant	rs12539848
Chromosome Location	chr7:66239831-66239832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66233619..66236445-chr7:66238794..66241787,2	MCF-7	breast:
2	chr7:66203830..66206564-chr7:66239736..66241863,2	K562	blood:
3	chr7:66232638..66234742-chr7:66239785..66241846,2	K562	blood:

Variant related genes	Relation type
ENSG00000154710	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000272831	Chromatin interaction

Extended variants
information (count: 244 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:240)

rs_ID	r²[population]
rs10499785	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530947	0.95[EUR][1000 genomes]
rs12531374	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12531377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12531516	0.85[ASN][1000 genomes]
rs12531690	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12531758	0.95[EUR][1000 genomes]
rs12532147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs12532650	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12532888	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12533018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12533886	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533963	0.90[EUR][1000 genomes]
rs12534192	0.87[EUR][1000 genomes]
rs12534355	0.81[EUR][1000 genomes]
rs12534391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs12534435	0.95[EUR][1000 genomes]
rs12535268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12535321	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12535363	0.95[EUR][1000 genomes]
rs12535756	0.95[EUR][1000 genomes]
rs12535766	0.95[EUR][1000 genomes]
rs12536130	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536586	0.95[EUR][1000 genomes]
rs12537037	0.95[EUR][1000 genomes]
rs12537346	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12537403	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12537545	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12537771	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12537825	0.82[ASN][1000 genomes]
rs12537955	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs12538126	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12538131	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12539116	0.95[EUR][1000 genomes]
rs12539191	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12539366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12539522	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12539696	0.90[EUR][1000 genomes]
rs12539749	0.95[EUR][1000 genomes]
rs12540312	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540447	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540455	0.95[EUR][1000 genomes]
rs12540536	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17138017	1.00[CEU][hapmap]
rs17228285	0.92[EUR][1000 genomes]
rs17228728	0.95[EUR][1000 genomes]
rs17229513	0.95[EUR][1000 genomes]
rs17229674	0.95[EUR][1000 genomes]
rs17230057	0.95[EUR][1000 genomes]
rs17294397	0.95[EUR][1000 genomes]
rs2091314	0.85[ASN][1000 genomes]
rs2279934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2279935	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2286682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs2286685	0.92[EUR][1000 genomes]
rs2286686	0.95[EUR][1000 genomes]
rs2293351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28431850	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34758320	0.85[ASN][1000 genomes]
rs35279320	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3735153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757420	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3764902	1.00[JPT][hapmap]
rs3778906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3778911	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]
rs3800811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800819	0.85[ASN][1000 genomes]
rs3823608	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4078168	0.95[EUR][1000 genomes]
rs4276561	0.95[EUR][1000 genomes]
rs4717305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs4717309	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4717311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4717312	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4717313	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4717314	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4717316	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4717318	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4717320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4717323	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4717324	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4717329	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap]
rs4718372	0.92[EUR][1000 genomes]
rs4718376	0.95[EUR][1000 genomes]
rs4718379	0.95[EUR][1000 genomes]
rs4718380	0.95[EUR][1000 genomes]
rs4718381	0.89[EUR][1000 genomes]
rs4718382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs4718390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718392	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718393	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718394	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718395	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718396	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718397	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718409	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62464646	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62464647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62464648	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62464651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62464652	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62464653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62464654	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62464655	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62464658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62464659	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465676	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465681	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465682	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465688	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465698	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465699	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62465700	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465701	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465705	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465706	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62465707	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465709	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465710	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465712	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465713	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465714	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465716	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465730	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465734	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465736	0.85[ASN][1000 genomes]
rs62465738	0.85[ASN][1000 genomes]
rs62465739	0.85[ASN][1000 genomes]
rs62465740	0.85[ASN][1000 genomes]
rs62465741	0.85[ASN][1000 genomes]
rs62465742	0.85[ASN][1000 genomes]
rs62465743	0.85[ASN][1000 genomes]
rs62465744	0.85[ASN][1000 genomes]
rs62465745	0.85[ASN][1000 genomes]
rs62465747	0.85[ASN][1000 genomes]
rs62465748	0.85[ASN][1000 genomes]
rs62466081	0.95[EUR][1000 genomes]
rs62466083	0.95[EUR][1000 genomes]
rs62466084	0.95[EUR][1000 genomes]
rs62466085	0.95[EUR][1000 genomes]
rs62466086	0.95[EUR][1000 genomes]
rs62466087	0.95[EUR][1000 genomes]
rs62466090	0.95[EUR][1000 genomes]
rs62466091	0.95[EUR][1000 genomes]
rs62466122	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466123	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466125	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466126	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466127	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466128	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466133	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466134	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466136	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466137	0.95[EUR][1000 genomes]
rs62466138	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466139	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466140	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466141	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466142	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466143	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466144	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466145	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466146	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466147	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466148	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466582	0.85[ASN][1000 genomes]
rs62466584	0.85[ASN][1000 genomes]
rs62466586	0.82[ASN][1000 genomes]
rs62466787	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466788	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466789	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466792	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466795	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62466797	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466798	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466799	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466801	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466802	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466803	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466805	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466806	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466847	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466848	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466849	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62466850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466852	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466856	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62466857	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466858	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62467760	0.92[EUR][1000 genomes]
rs62467762	0.95[EUR][1000 genomes]
rs62467763	0.95[EUR][1000 genomes]
rs62467764	0.95[EUR][1000 genomes]
rs62467765	0.95[EUR][1000 genomes]
rs62467766	0.95[EUR][1000 genomes]
rs62467767	0.88[EUR][1000 genomes]
rs62467768	0.90[EUR][1000 genomes]
rs62467769	0.95[EUR][1000 genomes]
rs62467770	0.95[EUR][1000 genomes]
rs62467771	0.92[EUR][1000 genomes]
rs62467801	0.92[EUR][1000 genomes]
rs62467802	0.95[EUR][1000 genomes]
rs62467804	0.95[EUR][1000 genomes]
rs62467805	0.95[EUR][1000 genomes]
rs62467811	0.95[EUR][1000 genomes]
rs62467814	0.95[EUR][1000 genomes]
rs62467816	0.95[EUR][1000 genomes]
rs62467856	0.92[EUR][1000 genomes]
rs62468260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62468261	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468263	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62469060	0.95[EUR][1000 genomes]
rs62469061	0.95[EUR][1000 genomes]
rs62469062	0.95[EUR][1000 genomes]
rs62469064	0.95[EUR][1000 genomes]
rs62469066	0.95[EUR][1000 genomes]
rs62469067	0.95[EUR][1000 genomes]
rs62469069	0.95[EUR][1000 genomes]
rs62469070	0.95[EUR][1000 genomes]
rs62469072	0.92[EUR][1000 genomes]
rs7384751	0.95[EUR][1000 genomes]
rs7781008	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9801144	0.84[EUR][1000 genomes]
rs9801269	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv981512	chr7:66223352-66249901	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12539848	hmm32897	cis	multi-tissue	Pritchard
rs12539848	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL
rs12539848	RABGEF1	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:66208000-66240800	Weak transcription	HSMMtube	muscle
3	chr7:66208000-66241800	Weak transcription	Hela-S3	cervix
4	chr7:66220000-66241000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:66221800-66240400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:66227000-66243000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:66231200-66246400	Weak transcription	Right Ventricle	heart
8	chr7:66231400-66255000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:66232600-66279800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:66233000-66241600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:66234200-66241800	Weak transcription	Small Intestine	intestine
12	chr7:66234800-66243600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:66234800-66275800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:66235000-66240400	Weak transcription	K562	blood
15	chr7:66235200-66261400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:66235400-66241000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:66235400-66255400	Weak transcription	Fetal Heart	heart
18	chr7:66236000-66259000	Strong transcription	NHDF-Ad	bronchial
19	chr7:66236600-66241000	Strong transcription	Fetal Intestine Small	intestine
20	chr7:66236600-66244600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:66236800-66242400	Strong transcription	HSMM	muscle
22	chr7:66236800-66242800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:66236800-66243400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:66236800-66243800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:66236800-66244800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:66236800-66245400	Strong transcription	GM12878-XiMat	blood
27	chr7:66236800-66247800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:66236800-66265200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:66236800-66276800	Strong transcription	Dnd41	blood
30	chr7:66236800-66277000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr7:66236800-66278400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:66237000-66243800	Strong transcription	Fetal Thymus	thymus
33	chr7:66237000-66244800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:66237000-66245000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:66237000-66245400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:66237200-66244000	Strong transcription	Placenta	Placenta
37	chr7:66237200-66262400	Weak transcription	Fetal Brain Male	brain
38	chr7:66237200-66277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:66237400-66242000	Strong transcription	Fetal Stomach	stomach
40	chr7:66238000-66242200	Strong transcription	Spleen	Spleen
41	chr7:66238000-66243600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:66238000-66246600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr7:66238000-66253800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr7:66238200-66240400	Strong transcription	Psoas Muscle	Psoas
45	chr7:66238200-66241000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:66238200-66241800	Strong transcription	Fetal Intestine Large	intestine
47	chr7:66238200-66242200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:66238200-66242200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:66238200-66242200	Strong transcription	Esophagus	oesophagus
50	chr7:66238200-66244600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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