Variant report

Variant	rs7720165
Chromosome Location	chr5:43301544-43301545
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43288467..43290159-chr5:43299881..43301853,2	K562	blood:
2	chr5:43300967..43302712-chr5:43482910..43485640,2	K562	blood:
3	chr5:43288589..43291497-chr5:43300001..43302646,2	MCF-7	breast:
4	chr5:43301271..43304105-chr5:43306951..43309047,2	MCF-7	breast:
5	chr5:43299389..43301701-chr5:43312894..43314825,2	K562	blood:

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000261604	Chromatin interaction
ENSG00000112972	Chromatin interaction

Extended variants
information (count: 162 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10039048	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10039617	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs10065852	0.92[CEU][hapmap]
rs10462048	0.96[CEU][hapmap];0.89[TSI][hapmap]
rs10512825	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512827	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10512828	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10805671	0.92[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs10805672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805673	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805674	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805675	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10941620	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10941621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941622	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941623	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941628	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10941630	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941631	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10941632	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11738086	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11739009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739665	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740128	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11741246	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11741797	0.89[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs11742171	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11742712	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743622	0.92[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs11743633	0.85[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.82[LWK][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11746629	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11747105	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11747834	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11950040	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11950448	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11951515	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11951584	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11956635	0.96[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11956936	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11956988	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11960415	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12109933	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12189016	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12189447	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12513864	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12514393	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515072	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516435	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12517362	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12518032	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518127	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12519554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12520012	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520895	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12522178	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187876	0.83[EUR][1000 genomes]
rs13659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548097	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564196	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1564197	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1564198	0.92[CEU][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs17244818	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs2086133	0.81[EUR][1000 genomes]
rs2126947	0.83[EUR][1000 genomes]
rs2126948	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169781	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2330150	0.85[EUR][1000 genomes]
rs2330242	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35231094	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35239179	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733768	0.92[CEU][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3733769	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756416	0.88[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs4050485	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4288122	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4320264	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4373285	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4395639	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4443425	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4443426	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.80[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4574553	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4591755	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4866734	0.80[EUR][1000 genomes]
rs4866737	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866741	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs4866813	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866818	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap]
rs4866820	0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4866821	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4866822	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];0.96[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4866824	1.00[CEU][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4866825	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4866826	0.86[EUR][1000 genomes]
rs55634155	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55647314	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55759097	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55759722	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55794239	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55800451	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55939301	0.82[ASN][1000 genomes]
rs55992392	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56023994	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56029402	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56071328	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56114604	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56185290	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56206275	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57066570	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57392430	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57401732	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58358642	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58679159	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58966636	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59078439	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59625262	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59814709	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60445501	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60826019	0.81[ASN][1000 genomes]
rs61627503	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6451684	0.92[CEU][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs66585077	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66691321	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66914803	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67415672	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67497876	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67620667	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67651757	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67817333	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860073	0.81[ASN][1000 genomes]
rs6863246	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6863360	0.92[EUR][1000 genomes]
rs6867954	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6886499	0.92[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6887351	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6895805	0.84[EUR][1000 genomes]
rs6898398	0.91[EUR][1000 genomes]
rs7380703	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs7445066	0.84[EUR][1000 genomes]
rs7701391	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7701642	0.82[CEU][hapmap]
rs7704588	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs7706402	0.85[ASN][1000 genomes]
rs7708779	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7714027	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7714919	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7716091	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs7720681	0.96[CEU][hapmap];0.90[CHB][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7722781	0.86[EUR][1000 genomes]
rs7727047	0.92[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs7734293	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs922439	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs9292871	0.92[CEU][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9292874	0.85[EUR][1000 genomes]
rs9790987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[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	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7720165	NNT	cis	multi-tissue	Pritchard
rs7720165	HMGCS1	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43284200-43309400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:43285600-43302000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:43285600-43302800	Strong transcription	Duodenum Mucosa	Duodenum
4	chr5:43286400-43302200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:43286400-43302400	Strong transcription	GM12878-XiMat	blood
6	chr5:43286600-43303000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:43286600-43303000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr5:43286800-43301800	Strong transcription	HMEC	breast
9	chr5:43286800-43302400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:43286800-43302600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:43286800-43302600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:43286800-43304400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:43287000-43302800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:43287000-43305000	Strong transcription	HUVEC	blood vessel
15	chr5:43287400-43302600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:43287400-43302800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:43287600-43302000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:43287800-43303600	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr5:43288200-43312400	Weak transcription	Spleen	Spleen
20	chr5:43288600-43310000	Weak transcription	Aorta	Aorta
21	chr5:43288800-43303600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:43289600-43303800	Strong transcription	Primary B cells from cord blood	blood
23	chr5:43290400-43302400	Strong transcription	Primary T cells from cord blood	blood
24	chr5:43291400-43301800	Weak transcription	Small Intestine	intestine
25	chr5:43291600-43302800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr5:43294200-43302800	Weak transcription	Pancreas	Pancrea
27	chr5:43294200-43303400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:43294200-43312400	Weak transcription	Thymus	Thymus
29	chr5:43294600-43309400	Weak transcription	Lung	lung
30	chr5:43295000-43301600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:43295000-43301800	Weak transcription	Ovary	ovary
32	chr5:43295000-43301800	Strong transcription	NHDF-Ad	bronchial
33	chr5:43295600-43311800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:43296000-43303800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:43296800-43302000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:43297200-43301800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:43297400-43301800	Weak transcription	Fetal Heart	heart
38	chr5:43297400-43302000	Weak transcription	Brain Angular Gyrus	brain
39	chr5:43297400-43304200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:43297400-43312200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:43297400-43312400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr5:43297600-43302400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:43297600-43302400	Weak transcription	Brain Substantia Nigra	brain
44	chr5:43297600-43311800	Weak transcription	Hela-S3	cervix
45	chr5:43297800-43304800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:43298200-43302000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:43298600-43310200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:43298800-43302000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:43298800-43302400	Weak transcription	Brain Germinal Matrix	brain
50	chr5:43298800-43304400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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