Variant report

Variant	rs3800813
Chromosome Location	chr7:66234638-66234639
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	GATA3	chr7:66234227-66234791	MCF-7	breast:	n/a	n/a
2	RCOR1	chr7:66234280-66234824	K562	blood:	n/a	n/a
3	MXI1	chr7:66234062-66235625	IMR90	lung:	n/a	n/a
4	TBL1XR1	chr7:66234143-66234639	GM12878	blood:	n/a	n/a
5	GATA3	chr7:66234323-66235070	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr7:66234245-66235099	SK-N-SH	brain:	n/a	n/a

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

Variant related genes	Relation type
RABGEF1	TF binding region

Extended variants
information (count: 231 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:226)

rs_ID	r²[population]
rs10499785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12530947	0.95[EUR][1000 genomes]
rs12531374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12531377	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12531402	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]
rs12531690	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12531758	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532147	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]
rs12532267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532650	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12532888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12533018	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12533886	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533958	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533963	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534192	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12534355	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12534391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534435	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12535268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12535321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535363	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12535756	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12535766	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12536130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12536586	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12537037	0.95[EUR][1000 genomes]
rs12537346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537545	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12537771	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537955	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12538126	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12538131	0.89[EUR][1000 genomes]
rs12539116	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12539191	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12539522	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539696	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12539749	0.95[EUR][1000 genomes]
rs12539848	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]
rs12540312	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12540447	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12540455	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12540536	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138017	1.00[CEU][hapmap]
rs17228285	0.92[EUR][1000 genomes]
rs17228728	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17229513	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17229674	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17230057	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17294397	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2075004	0.95[EUR][1000 genomes]
rs2279934	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279935	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2286685	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2286686	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2293351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28431850	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35279320	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3735152	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735153	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3757420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764902	1.00[JPT][hapmap]
rs3778906	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]
rs3778911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800811	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3814466	0.95[EUR][1000 genomes]
rs3823608	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4078168	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4276561	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4717305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4717309	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4717311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4717312	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4717313	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717314	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717316	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717320	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4717323	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4717324	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4717329	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs4718372	0.92[EUR][1000 genomes]
rs4718376	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718379	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718380	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718381	0.89[EUR][1000 genomes]
rs4718382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718392	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718396	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718402	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4718407	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464647	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464651	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464653	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464658	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62464659	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465457	0.95[EUR][1000 genomes]
rs62465458	0.95[EUR][1000 genomes]
rs62465661	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62465676	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465678	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465682	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465688	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465698	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465699	0.81[AMR][1000 genomes]
rs62465700	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465701	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465705	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465706	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62465707	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62465709	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465710	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465712	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465713	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465714	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465716	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465730	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465734	0.84[EUR][1000 genomes]
rs62466081	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466083	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466084	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466085	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466086	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466087	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466090	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466091	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466122	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466123	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466125	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466126	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466127	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466128	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466133	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466134	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466136	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466137	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62466138	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466139	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466140	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466141	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466142	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466143	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466144	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466145	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466146	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466147	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466148	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466787	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466788	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466789	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466792	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466795	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62466797	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466798	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466799	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466801	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466802	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466808	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466849	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466850	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466851	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466855	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62466857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466859	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.84[ASN][1000 genomes]
rs62467802	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467804	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467805	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467811	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62467814	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62467816	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62467856	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62468260	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62468262	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62468263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469060	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469061	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62469062	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469064	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469066	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469067	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469069	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62469070	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62469072	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7384751	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7781008	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7782418	0.90[ASN][1000 genomes]
rs9801144	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9801269	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
rs3800813	hmm32897	cis	multi-tissue	Pritchard
rs3800813	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL
rs3800813	RABGEF1	cis	multi-tissue	Pritchard

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66206800-66238800	Weak transcription	Aorta	Aorta
2	chr7:66207000-66238400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:66207000-66238400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:66207600-66239800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:66208000-66236800	Weak transcription	Dnd41	blood
7	chr7:66208000-66238000	Weak transcription	A549	lung
8	chr7:66208000-66238600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:66208000-66238600	Weak transcription	Brain Germinal Matrix	brain
10	chr7:66208000-66240800	Weak transcription	HSMMtube	muscle
11	chr7:66208000-66241800	Weak transcription	Hela-S3	cervix
12	chr7:66209400-66239000	Weak transcription	HMEC	breast
13	chr7:66212000-66236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:66214400-66236600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:66214400-66239400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:66216800-66239400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:66220000-66241000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:66221800-66240400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:66223600-66237600	Weak transcription	Liver	Liver
20	chr7:66223800-66236800	Weak transcription	Spleen	Spleen
21	chr7:66223800-66238400	Weak transcription	Lung	lung
22	chr7:66224200-66234800	Weak transcription	HSMM	muscle
23	chr7:66224200-66238200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:66224400-66237000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr7:66224400-66238400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:66224400-66238600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:66224800-66237000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:66225400-66234800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:66226400-66238400	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:66227000-66243000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:66227600-66238600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:66228800-66236800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:66229200-66234800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:66229200-66239200	Weak transcription	Fetal Lung	lung
35	chr7:66229800-66238800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:66230800-66238400	Weak transcription	HUVEC	blood vessel
37	chr7:66231000-66235400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:66231000-66236800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:66231000-66237000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:66231000-66239000	Weak transcription	NH-A	brain
41	chr7:66231200-66234800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:66231200-66235000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:66231200-66235400	Weak transcription	Fetal Intestine Small	intestine
44	chr7:66231200-66237400	Weak transcription	Stomach Mucosa	stomach
45	chr7:66231200-66238200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:66231200-66246400	Weak transcription	Right Ventricle	heart
47	chr7:66231400-66237000	Weak transcription	Fetal Intestine Large	intestine
48	chr7:66231400-66237000	Weak transcription	HepG2	liver
49	chr7:66231400-66238200	Weak transcription	Psoas Muscle	Psoas
50	chr7:66231400-66255000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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