Variant report

Variant	rs295531
Chromosome Location	chr5:60395743-60395744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60385727..60388209-chr5:60393407..60396007,2	K562	blood:
2	chr5:60388764..60392434-chr5:60393819..60396676,3	K562	blood:
3	chr5:60393939..60398083-chr5:60399417..60401955,3	K562	blood:
4	chr5:60393939..60396673-chr5:60399417..60401955,2	K562	blood:

Extended variants
information (count: 196 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:189)

rs_ID	r²[population]
rs10064187	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10076937	0.91[ASN][1000 genomes]
rs1038144	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10471502	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10514906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11744756	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11957772	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs124898	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518865	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12522154	0.91[ASN][1000 genomes]
rs13155076	0.91[ASN][1000 genomes]
rs13168191	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13359074	0.82[ASN][1000 genomes]
rs1382914	0.94[ASN][1000 genomes]
rs158564	0.94[ASN][1000 genomes]
rs158570	0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs158571	0.91[ASN][1000 genomes]
rs158572	0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs158696	0.88[ASN][1000 genomes]
rs158697	0.88[ASN][1000 genomes]
rs158699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs158700	0.88[ASN][1000 genomes]
rs158914	1.00[CEU][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158915	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158918	0.86[ASN][1000 genomes]
rs158919	0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158921	1.00[JPT][hapmap]
rs158922	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158923	0.94[ASN][1000 genomes]
rs158924	0.94[ASN][1000 genomes]
rs158927	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158929	0.97[ASN][1000 genomes]
rs158931	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158932	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs158933	0.91[ASN][1000 genomes]
rs158934	0.91[ASN][1000 genomes]
rs158935	0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158936	0.91[ASN][1000 genomes]
rs158937	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs158938	0.81[CEU][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs159357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159358	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159371	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159374	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159375	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159376	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159377	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159378	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159380	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162228	0.97[ASN][1000 genomes]
rs162234	0.94[ASN][1000 genomes]
rs162238	0.94[ASN][1000 genomes]
rs162241	0.94[ASN][1000 genomes]
rs162242	0.94[ASN][1000 genomes]
rs162243	0.86[ASN][1000 genomes]
rs162244	0.94[ASN][1000 genomes]
rs162246	0.86[ASN][1000 genomes]
rs162248	0.94[ASN][1000 genomes]
rs162251	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs168710	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16878547	0.88[ASN][1000 genomes]
rs16878548	0.88[ASN][1000 genomes]
rs169700	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs172348	0.94[ASN][1000 genomes]
rs172945	0.94[ASN][1000 genomes]
rs1820082	0.86[ASN][1000 genomes]
rs182410	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs185354	0.82[AFR][1000 genomes]
rs187459	0.94[ASN][1000 genomes]
rs1989653	0.88[ASN][1000 genomes]
rs2080869	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2120954	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2120955	0.97[ASN][1000 genomes]
rs2263514	0.94[ASN][1000 genomes]
rs2270822	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs248677	0.94[ASN][1000 genomes]
rs248682	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248683	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248685	0.94[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248688	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2545475	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2545478	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2545493	0.85[ASN][1000 genomes]
rs2545503	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256375	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256376	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2590570	0.91[ASN][1000 genomes]
rs2619890	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2619893	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2650512	0.94[ASN][1000 genomes]
rs2650517	0.94[ASN][1000 genomes]
rs2694518	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2694528	0.88[ASN][1000 genomes]
rs2694530	0.94[ASN][1000 genomes]
rs2694531	0.94[ASN][1000 genomes]
rs28407266	0.97[ASN][1000 genomes]
rs290503	0.94[ASN][1000 genomes]
rs290506	0.94[ASN][1000 genomes]
rs290507	0.94[ASN][1000 genomes]
rs290511	0.88[ASN][1000 genomes]
rs290513	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs290514	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs290515	0.97[ASN][1000 genomes]
rs2928244	0.82[EUR][1000 genomes]
rs2950235	0.94[ASN][1000 genomes]
rs295522	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295532	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295533	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295551	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295559	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295560	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295563	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295564	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295566	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295569	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295573	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295578	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295579	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3101879	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3108388	0.94[ASN][1000 genomes]
rs3117	0.91[ASN][1000 genomes]
rs329622	0.94[ASN][1000 genomes]
rs329623	0.94[ASN][1000 genomes]
rs329624	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs329625	0.94[ASN][1000 genomes]
rs329626	0.94[ASN][1000 genomes]
rs34591	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34592	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34593	0.94[ASN][1000 genomes]
rs34594	0.94[EUR][1000 genomes]
rs34610	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34614	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34621	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34623	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34624	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34636	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34637	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34638	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34639	0.94[ASN][1000 genomes]
rs34643	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs35546392	0.88[ASN][1000 genomes]
rs35617853	0.86[ASN][1000 genomes]
rs35766700	0.91[ASN][1000 genomes]
rs35948426	0.91[ASN][1000 genomes]
rs39661	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40084	0.94[ASN][1000 genomes]
rs40421	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4141502	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4235483	0.91[ASN][1000 genomes]
rs4235484	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs42437	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4546327	0.86[ASN][1000 genomes]
rs4647045	1.00[CHB][hapmap]
rs4647102	0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4647138	0.91[ASN][1000 genomes]
rs4647139	0.91[ASN][1000 genomes]
rs4647151	0.86[ASN][1000 genomes]
rs4647162	0.86[ASN][1000 genomes]
rs4699967	0.83[ASN][1000 genomes]
rs4700406	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4700410	0.85[ASN][1000 genomes]
rs56409036	0.94[ASN][1000 genomes]
rs59292447	0.94[ASN][1000 genomes]
rs59797139	0.89[ASN][1000 genomes]
rs6862622	0.94[ASN][1000 genomes]
rs6863749	0.94[ASN][1000 genomes]
rs6864355	0.81[ASN][1000 genomes]
rs6868884	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6869073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869454	0.94[ASN][1000 genomes]
rs6878124	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6885989	0.91[ASN][1000 genomes]
rs6886481	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6893210	0.94[ASN][1000 genomes]
rs723276	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7701839	0.85[AFR][1000 genomes]
rs7712364	0.94[ASN][1000 genomes]
rs7718028	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7723754	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs810883	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs810884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9291702	0.88[ASN][1000 genomes]
rs929780	0.86[ASN][1000 genomes]
rs976080	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9763418	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs976581	1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1019307	chr5:60295350-60409077	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv598314	chr5:60374912-60459040	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs295531	NDUFAF2	cis	cerebellum	SCAN
rs295531	ERCC8	Cis_1M	lymphoblastoid	RTeQTL
rs295531	ELOVL7	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60326000-60400800	Weak transcription	Left Ventricle	heart
2	chr5:60350800-60396200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:60366400-60397400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:60367400-60399400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:60367600-60398400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:60367800-60403800	Weak transcription	Primary B cells from cord blood	blood
7	chr5:60368200-60397600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:60368200-60402000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:60369000-60400200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:60369800-60396400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:60371600-60398000	Weak transcription	HSMM	muscle
12	chr5:60378800-60403400	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:60379400-60403000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:60381000-60419400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:60381400-60397600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:60387800-60396200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:60388200-60399200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:60388400-60401400	Weak transcription	Fetal Intestine Large	intestine
19	chr5:60389600-60396200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:60390800-60398800	Weak transcription	Psoas Muscle	Psoas
21	chr5:60391800-60396000	Weak transcription	Fetal Intestine Small	intestine
22	chr5:60392800-60397800	Weak transcription	GM12878-XiMat	blood
23	chr5:60393000-60404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:60393600-60396800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:60394000-60399800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr5:60394200-60405000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:60394400-60396000	Weak transcription	Osteobl	bone
28	chr5:60394400-60400400	Weak transcription	NHDF-Ad	bronchial
29	chr5:60394400-60404400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:60394400-60415400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:60394600-60399200	Weak transcription	NHEK	skin
32	chr5:60395000-60400000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:60395000-60400600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:60395200-60402000	Weak transcription	Small Intestine	intestine
35	chr5:60395400-60396000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:60395400-60398600	Weak transcription	A549	lung
37	chr5:60395400-60404600	Weak transcription	Fetal Brain Male	brain
38	chr5:60395400-60428200	Weak transcription	HSMMtube	muscle
39	chr5:60395600-60396200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr5:60395600-60396400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
41	chr5:60395600-60396600	Enhancers	Primary hematopoietic stem cells	blood
42	chr5:60395600-60396800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:60395600-60396800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr5:60395600-60396800	Strong transcription	Ovary	ovary
45	chr5:60395600-60396800	Enhancers	K562	blood
46	chr5:60395600-60397000	Strong transcription	HepG2	liver
47	chr5:60395600-60397600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:60395600-60398200	Strong transcription	Primary T cells from cord blood	blood
49	chr5:60395600-60398800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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