Variant report

Variant	rs34624
Chromosome Location	chr5:60459716-60459717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:60459622-60460326	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:60457563-60460493	GM12891	blood:	n/a	n/a
3	POLR2A	chr5:60457246-60460035	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:60455764-60460434	K562	blood:	n/a	n/a
5	HCFC1	chr5:60457220-60459753	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:60457331-60460406	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:60457726-60459721	IMR90	lung:	n/a	n/a
8	POLR2A	chr5:60457247-60459892	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr5:60457156-60460506	MCF10A-Er-Src	breast:	n/a	n/a
10	MXI1	chr5:60457331-60460236	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr5:60457596-60460211	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr5:60459516-60460423	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:60457578-60460024	GM19099	blood:	n/a	n/a
14	POLR2A	chr5:60457642-60460052	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60456297..60461829-chr5:60626718..60632720,8	K562	blood:
2	chr5:60428916..60430499-chr5:60459028..60461996,2	K562	blood:
3	chr5:60454421..60471345-chr5:60622342..60633215,36	MCF-7	breast:
4	chr5:60459450..60460955-chr5:60472059..60474565,2	MCF-7	breast:
5	chr5:60454193..60465680-chr5:60622262..60629761,38	MCF-7	breast:
6	chr5:60456802..60459800-chr5:60641121..60644130,3	MCF-7	breast:
7	chr5:59994474..59997876-chr5:60455928..60460228,5	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFAF2-2	chr5:60458334-60460554	NONHSAT101658

No data

Variant related genes	Relation type
SMIM15	TF binding region
ENSG00000251682	Chromatin interaction
ENSG00000130449	Chromatin interaction
ENSG00000035499	Chromatin interaction

Extended variants
information (count: 182 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:179)

rs_ID	r²[population]
rs10064187	0.97[ASN][1000 genomes]
rs10471502	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10514906	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs10939882	0.88[EUR][1000 genomes]
rs11951076	0.87[EUR][1000 genomes]
rs11957772	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs124898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518865	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13168191	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13171576	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs1382914	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158564	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158570	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158571	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158696	0.88[ASN][1000 genomes]
rs158697	0.88[ASN][1000 genomes]
rs158699	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs158700	0.88[ASN][1000 genomes]
rs158914	0.91[ASN][1000 genomes]
rs158915	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158918	0.86[ASN][1000 genomes]
rs158919	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158922	0.91[ASN][1000 genomes]
rs158923	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158924	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158927	0.97[ASN][1000 genomes]
rs158929	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158931	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158932	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs158933	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158934	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158935	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158936	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158937	0.86[ASN][1000 genomes]
rs158938	0.91[ASN][1000 genomes]
rs159357	1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159358	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159371	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];0.80[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159374	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159375	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];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159376	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159377	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159378	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159380	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159537	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs162228	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162234	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162238	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162241	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162242	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162243	0.86[ASN][1000 genomes]
rs162244	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162246	0.86[ASN][1000 genomes]
rs162247	0.89[EUR][1000 genomes]
rs162248	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162251	0.94[ASN][1000 genomes]
rs168710	0.94[ASN][1000 genomes]
rs16878547	0.88[ASN][1000 genomes]
rs16878548	0.88[ASN][1000 genomes]
rs169700	0.94[ASN][1000 genomes]
rs172348	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs172945	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1820082	0.86[ASN][1000 genomes]
rs182410	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs185354	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs187459	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1989653	0.88[ASN][1000 genomes]
rs2080869	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2112365	0.88[EUR][1000 genomes]
rs2120954	0.91[ASN][1000 genomes]
rs2120955	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2263514	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2270822	1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs248677	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248682	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248683	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248685	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248688	0.94[ASN][1000 genomes]
rs2545475	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2545478	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2545493	0.85[ASN][1000 genomes]
rs2545503	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256375	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256376	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2590570	0.91[ASN][1000 genomes]
rs2619890	0.94[ASN][1000 genomes]
rs2619893	0.94[ASN][1000 genomes]
rs2650506	0.81[EUR][1000 genomes]
rs2650512	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2650517	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694518	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2694528	0.88[ASN][1000 genomes]
rs2694530	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694531	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28407266	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs290503	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs290506	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs290507	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs290511	0.88[ASN][1000 genomes]
rs290513	0.94[ASN][1000 genomes]
rs290514	0.97[ASN][1000 genomes]
rs290515	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs290516	0.86[EUR][1000 genomes]
rs2950235	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295524	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295531	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295532	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295533	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295551	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295559	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs295560	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295561	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295563	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295564	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295566	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295569	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295573	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295578	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs295582	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs298629	0.87[EUR][1000 genomes]
rs3101879	0.94[ASN][1000 genomes]
rs3108388	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs329622	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs329623	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs329624	0.94[ASN][1000 genomes]
rs329625	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs329626	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34591	0.94[ASN][1000 genomes]
rs34592	0.94[ASN][1000 genomes]
rs34593	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34609	0.89[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs34610	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34613	0.87[EUR][1000 genomes]
rs34614	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34616	0.89[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs34617	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs34621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34623	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34625	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs34636	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34637	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34638	0.94[ASN][1000 genomes]
rs34639	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34643	0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs34644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39661	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40084	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40421	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4141502	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4235484	0.91[ASN][1000 genomes]
rs42437	0.94[ASN][1000 genomes]
rs4699967	0.83[ASN][1000 genomes]
rs4699969	0.88[EUR][1000 genomes]
rs4700406	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4700410	0.85[ASN][1000 genomes]
rs56409036	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59292447	0.94[ASN][1000 genomes]
rs6862622	0.94[ASN][1000 genomes]
rs6863749	0.94[ASN][1000 genomes]
rs6868884	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6869073	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869454	0.94[ASN][1000 genomes]
rs6878124	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6886481	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6893210	0.94[ASN][1000 genomes]
rs723276	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7701839	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7706753	0.86[EUR][1000 genomes]
rs7712364	0.94[ASN][1000 genomes]
rs7718028	1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs7721096	0.80[EUR][1000 genomes]
rs7723754	1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs810883	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs810884	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9291702	0.88[ASN][1000 genomes]
rs976080	0.91[ASN][1000 genomes]
rs976581	0.81[EUR][1000 genomes];0.97[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	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	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
3	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs34624	ELOVL7	cis	parietal	SCAN
rs34624	NDUFAF2	cis	cerebellum	SCAN
rs34624	mimitin	cis	multi-tissue	Pritchard
rs34624	ERCC8	cis	multi-tissue	Pritchard

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60456800-60459800	Active TSS	NHDF-Ad	bronchial
2	chr5:60457000-60459800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:60457000-60459800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr5:60457000-60460000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:60457000-60460000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:60457000-60460200	Active TSS	A549	lung
7	chr5:60457200-60459800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:60457200-60459800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr5:60457200-60459800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:60457200-60459800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:60457200-60459800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:60457200-60459800	Active TSS	Fetal Muscle Trunk	muscle
13	chr5:60457200-60459800	Active TSS	Stomach Smooth Muscle	stomach
14	chr5:60458600-60459800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:60458800-60459800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:60458800-60459800	Flanking Active TSS	Fetal Brain Female	brain
17	chr5:60459000-60459800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:60459000-60459800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:60459000-60459800	Weak transcription	Lung	lung
20	chr5:60459000-60459800	Flanking Active TSS	Osteobl	bone
21	chr5:60459000-60460000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:60459000-60460000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr5:60459000-60460000	Flanking Active TSS	Fetal Heart	heart
24	chr5:60459000-60460200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:60459000-60460200	Enhancers	Spleen	Spleen
26	chr5:60459200-60459800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr5:60459200-60459800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr5:60459200-60459800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:60459200-60459800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr5:60459200-60459800	Weak transcription	Ovary	ovary
31	chr5:60459200-60459800	Flanking Active TSS	HMEC	breast
32	chr5:60459200-60460000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr5:60459200-60460000	Weak transcription	Aorta	Aorta
34	chr5:60459200-60460000	Flanking Active TSS	Liver	Liver
35	chr5:60459200-60460000	Flanking Active TSS	Fetal Lung	lung
36	chr5:60459200-60460000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr5:60459200-60460000	Flanking Active TSS	K562	blood
38	chr5:60459200-60460000	Flanking Active TSS	NHEK	skin
39	chr5:60459200-60460200	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr5:60459400-60459800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr5:60459400-60459800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:60459400-60459800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:60459400-60459800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:60459400-60459800	Weak transcription	Fetal Stomach	stomach
45	chr5:60459400-60459800	Active TSS	NHLF	lung
46	chr5:60459400-60460000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:60459400-60460000	Enhancers	Brain Anterior Caudate	brain
48	chr5:60459400-60460000	Enhancers	Brain Hippocampus Middle	brain
49	chr5:60459400-60460000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:60459400-60460000	Enhancers	Colon Smooth Muscle	Colon

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