Variant report

Variant	rs158919
Chromosome Location	chr5:60241946-60241947
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:60240685-60241980	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr5:60241107-60241957	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr5:60240584-60242125	Hela-S3	cervix:	n/a	n/a
4	SIN3AK20	chr5:60240673-60242066	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr5:60240225-60242136	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr5:60240662-60242115	K562	blood:	n/a	n/a
7	TCF7L2	chr5:60240758-60242103	Hela-S3	cervix:	n/a	n/a
8	MAX	chr5:60240654-60242137	K562	blood:	n/a	n/a
9	MAZ	chr5:60241879-60241966	GM12878	blood:	n/a	n/a
10	MAZ	chr5:60240693-60242015	Hela-S3	cervix:	n/a	n/a
11	MYC	chr5:60240634-60242089	NB4	blood:	n/a	n/a
12	CTCF	chr5:60241820-60241970	AG10803	skin:	n/a	n/a
13	POLR2A	chr5:60240629-60241955	GM12878	blood:	n/a	n/a
14	MAX	chr5:60240708-60242143	Hela-S3	cervix:	n/a	n/a
15	E2F6	chr5:60241846-60242091	K562	blood:	n/a	n/a
16	NFYB	chr5:60241896-60242305	GM12878	blood:	n/a	n/a
17	E2F6	chr5:60241134-60242190	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr5:60241124-60242246	MCF-7	breast:	n/a	n/a
19	E2F6	chr5:60240778-60242041	Hela-S3	cervix:	n/a	n/a
20	REST	chr5:60241791-60242001	SK-N-SH	brain:	n/a	n/a
21	MAX	chr5:60240540-60242241	HCT-116	colon:	n/a	n/a
22	MXI1	chr5:60240687-60242018	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr5:60240691-60242167	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:60240674-60242073	Hela-S3	cervix:	n/a	n/a
25	RFX5	chr5:60240698-60242045	Hela-S3	cervix:	n/a	n/a
26	RCOR1	chr5:60240701-60242268	K562	blood:	n/a	n/a
27	MAX	chr5:60240632-60242193	NB4	blood:	n/a	n/a
28	SIN3AK20	chr5:60241256-60242013	PANC-1	pancreas:	n/a	n/a
29	TCF7L2	chr5:60240807-60242077	HCT-116	colon:	n/a	n/a
30	CTCF	chr5:60241860-60242010	HPAF	blood vessel:	n/a	n/a
31	SIN3AK20	chr5:60240579-60242297	MCF-7	breast:	n/a	n/a
32	SIN3AK20	chr5:60241805-60242103	PFSK-1	brain:	n/a	n/a
33	TBP	chr5:60240357-60242128	K562	blood:	n/a	n/a
34	RCOR1	chr5:60241466-60242208	Hela-S3	cervix:	n/a	n/a
35	MXI1	chr5:60240583-60242413	IMR90	lung:	n/a	n/a
36	MXI1	chr5:60240370-60242656	SK-N-SH	brain:	n/a	n/a
37	E2F6	chr5:60240662-60242194	K562	blood:	n/a	n/a
38	YY1	chr5:60241883-60242088	K562	blood:	n/a	n/a
39	MXI1	chr5:60240649-60242096	GM12878	blood:	n/a	n/a
40	E2F6	chr5:60240569-60242292	H1-hESC	embryonic stem cell:	n/a	n/a
41	CCNT2	chr5:60241747-60241947	K562	blood:	n/a	n/a
42	MAX	chr5:60240557-60242230	HepG2	liver:	n/a	n/a
43	REST	chr5:60241790-60242084	K562	blood:	n/a	n/a
44	MAX	chr5:60241111-60242202	A549	lung:	n/a	n/a
45	FOXA1	chr5:60241548-60242052	T-47D	breast:	n/a	n/a
46	POLR2A	chr5:60240646-60241990	NB4	blood:	n/a	n/a
47	HCFC1	chr5:60241789-60241988	K562	blood:	n/a	n/a
48	RCOR1	chr5:60241908-60242274	GM12878	blood:	n/a	n/a
49	HA-E2F1	chr5:60240733-60242173	MCF-7	breast:	n/a	n/a
50	CEBPB	chr5:60240711-60242121	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60241626..60243235-chr5:60252135..60253778,2	K562	blood:
2	chr5:59995886..59998322-chr5:60239584..60242446,2	MCF-7	breast:
3	chr5:60138467..60140103-chr5:60240605..60242461,2	MCF-7	breast:
4	chr5:60234642..60236205-chr5:60241471..60243288,2	MCF-7	breast:
5	chr5:59995106..59997535-chr5:60240120..60242292,3	K562	blood:

No data

Variant related genes	Relation type
ERCC8	TF binding region
ENSG00000164181	Chromatin interaction
ENSG00000035499	Chromatin interaction

Extended variants
information (count: 231 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:204)

rs_ID	r²[population]
rs10062465	0.80[ASN][1000 genomes]
rs10064187	0.94[ASN][1000 genomes]
rs10076937	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1020371	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1038144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10471502	0.97[ASN][1000 genomes]
rs10514906	0.86[ASN][1000 genomes]
rs10939882	0.81[EUR][1000 genomes]
rs11744756	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11957772	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs124898	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12518865	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12522154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13155076	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13168191	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13171576	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs13359074	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1382914	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158564	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158571	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158572	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];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs158696	0.91[ASN][1000 genomes]
rs158697	0.91[ASN][1000 genomes]
rs158699	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158700	0.91[ASN][1000 genomes]
rs158914	0.89[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158918	0.94[ASN][1000 genomes]
rs158921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs158922	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158923	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158924	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158927	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs158929	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158932	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158933	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158934	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158935	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];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158936	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs158938	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159357	0.91[ASN][1000 genomes]
rs159358	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs159371	0.91[ASN][1000 genomes]
rs159374	0.91[ASN][1000 genomes]
rs159375	0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs159376	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs159377	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs159378	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs159380	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs162228	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162234	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162238	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162241	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162242	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162243	0.89[ASN][1000 genomes]
rs162244	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162246	0.89[ASN][1000 genomes]
rs162247	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs162248	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162251	0.97[ASN][1000 genomes]
rs168710	0.97[ASN][1000 genomes]
rs16878547	0.91[ASN][1000 genomes]
rs16878548	0.91[ASN][1000 genomes]
rs169700	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs172348	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs172945	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1820082	0.83[ASN][1000 genomes]
rs182410	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs185354	0.83[EUR][1000 genomes]
rs1867598	0.83[ASN][1000 genomes]
rs1870682	1.00[CHB][hapmap]
rs187459	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1989653	0.91[ASN][1000 genomes]
rs2080869	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2112365	0.81[EUR][1000 genomes]
rs2120954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2120955	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2263514	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2270822	0.86[ASN][1000 genomes]
rs2409823	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs2409824	1.00[CHB][hapmap]
rs248677	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs248682	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs248683	0.97[ASN][1000 genomes]
rs248685	0.96[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs248688	0.97[ASN][1000 genomes]
rs2545475	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2545478	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2545493	0.83[ASN][1000 genomes]
rs2545503	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs256375	0.91[ASN][1000 genomes]
rs256376	0.91[ASN][1000 genomes]
rs2590570	0.89[ASN][1000 genomes]
rs2619890	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2619893	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2650506	0.87[EUR][1000 genomes]
rs2650512	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2650517	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2694518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694528	0.91[ASN][1000 genomes]
rs2694530	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2694531	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28407266	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs290503	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs290506	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs290507	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs290509	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs290511	0.91[ASN][1000 genomes]
rs290513	0.97[ASN][1000 genomes]
rs290514	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs290515	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs290516	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2950235	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295522	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs295524	0.91[ASN][1000 genomes]
rs295531	0.91[ASN][1000 genomes]
rs295532	0.85[EUR][1000 genomes]
rs295533	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295551	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs295559	0.91[ASN][1000 genomes]
rs295560	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs295561	0.91[ASN][1000 genomes]
rs295563	0.91[ASN][1000 genomes]
rs295564	0.91[ASN][1000 genomes]
rs295566	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs295569	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs295573	0.91[ASN][1000 genomes]
rs295578	0.91[ASN][1000 genomes]
rs295579	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs3101879	0.97[ASN][1000 genomes]
rs3108388	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3117	0.89[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];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs329622	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs329623	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs329624	0.97[ASN][1000 genomes]
rs329625	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs329626	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34591	0.97[ASN][1000 genomes]
rs34592	0.97[ASN][1000 genomes]
rs34593	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34610	0.91[ASN][1000 genomes]
rs34614	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34621	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34623	0.91[ASN][1000 genomes]
rs34624	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34625	0.81[EUR][1000 genomes]
rs34636	1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34637	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34638	0.97[ASN][1000 genomes]
rs34639	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34643	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs34644	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35546392	0.86[ASN][1000 genomes]
rs35617853	0.83[ASN][1000 genomes]
rs35766700	0.89[ASN][1000 genomes]
rs35948426	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs39661	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs40084	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40421	0.97[ASN][1000 genomes]
rs4141502	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4235483	0.94[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];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4235484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs42437	0.97[ASN][1000 genomes]
rs4546327	0.83[ASN][1000 genomes]
rs4647102	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];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4647138	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4647139	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4647151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4647162	0.86[EUR][1000 genomes]
rs4699963	0.83[ASN][1000 genomes]
rs4699967	0.86[ASN][1000 genomes]
rs4699969	0.81[EUR][1000 genomes]
rs4700406	0.97[ASN][1000 genomes]
rs56409036	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59292447	0.86[ASN][1000 genomes]
rs59797139	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6862622	0.86[ASN][1000 genomes]
rs6863749	0.86[ASN][1000 genomes]
rs6864355	0.83[EUR][1000 genomes]
rs6868884	0.97[ASN][1000 genomes]
rs6869073	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6869454	0.86[ASN][1000 genomes]
rs6878124	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6885989	0.89[ASN][1000 genomes]
rs6886481	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6893210	0.86[ASN][1000 genomes]
rs723276	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7701839	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7712364	0.86[ASN][1000 genomes]
rs7718028	0.86[ASN][1000 genomes]
rs7722373	0.88[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7723754	0.86[ASN][1000 genomes]
rs810883	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs810884	0.91[ASN][1000 genomes]
rs921898	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs9291702	0.91[ASN][1000 genomes]
rs929780	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs973304	0.83[ASN][1000 genomes]
rs976080	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9763418	0.89[ASN][1000 genomes]
rs976581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934153	chr5:60004982-60309751	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv881712	chr5:60116613-60266875	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv881713	chr5:60116613-60305125	Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv598305	chr5:60116613-60308836	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv881714	chr5:60116613-60313015	Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv598306	chr5:60129361-60266875	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv598307	chr5:60129361-60308836	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv881716	chr5:60129361-60313015	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv462199	chr5:60129361-60329624	Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv598308	chr5:60129361-60329624	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv462200	chr5:60135985-60266875	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv598309	chr5:60135985-60266875	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv598310	chr5:60135985-60308836	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv598311	chr5:60136626-60308836	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv520871	chr5:60141245-60320157	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv881717	chr5:60141245-60372582	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv598312	chr5:60147754-60313015	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv881718	chr5:60147754-60313015	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	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
24	nsv1025896	chr5:60190594-60255004	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	nsv933573	chr5:60224875-60309751	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
26	nsv881721	chr5:60232646-60344399	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	nsv933769	chr5:60240706-60309751	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs158919	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60239600-60242000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:60239600-60242200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:60239600-60242400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:60239600-60242400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:60239600-60242400	Active TSS	Right Atrium	heart
6	chr5:60239600-60242600	Active TSS	A549	lung
7	chr5:60239800-60242200	Active TSS	Colonic Mucosa	Colon
8	chr5:60239800-60242800	Active TSS	Psoas Muscle	Psoas
9	chr5:60240000-60242000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:60240000-60242000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:60240000-60242200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:60240000-60242200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:60240000-60242200	Active TSS	Fetal Stomach	stomach
14	chr5:60240000-60242200	Active TSS	Gastric	stomach
15	chr5:60240000-60242200	Active TSS	Left Ventricle	heart
16	chr5:60240000-60242200	Active TSS	Ovary	ovary
17	chr5:60240000-60242400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:60240000-60242600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr5:60240000-60242600	Active TSS	GM12878-XiMat	blood
20	chr5:60240000-60242600	Active TSS	K562	blood
21	chr5:60240200-60242000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr5:60240200-60242000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:60240200-60242000	Active TSS	Fetal Heart	heart
24	chr5:60240200-60242200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr5:60240200-60242200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:60240200-60242200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:60240200-60242200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr5:60240200-60242200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:60240200-60242200	Active TSS	Brain Hippocampus Middle	brain
30	chr5:60240200-60242200	Active TSS	Esophagus	oesophagus
31	chr5:60240200-60242200	Active TSS	Fetal Intestine Large	intestine
32	chr5:60240200-60242200	Active TSS	Fetal Kidney	kidney
33	chr5:60240200-60242200	Active TSS	Lung	lung
34	chr5:60240200-60242200	Active TSS	Pancreas	Pancrea
35	chr5:60240200-60242400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:60240200-60242400	Active TSS	Fetal Intestine Small	intestine
37	chr5:60240200-60242400	Active TSS	HSMM	muscle
38	chr5:60240200-60242600	Active TSS	Brain Germinal Matrix	brain
39	chr5:60240200-60242600	Active TSS	Hela-S3	cervix
40	chr5:60240200-60242600	Active TSS	NHLF	lung
41	chr5:60240200-60242800	Active TSS	NHDF-Ad	bronchial
42	chr5:60240200-60243000	Active TSS	NHEK	skin
43	chr5:60240400-60242000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:60240400-60242000	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr5:60240400-60242000	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr5:60240400-60242000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:60240400-60242000	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr5:60240400-60242000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:60240400-60242000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:60240400-60242000	Active TSS	Aorta	Aorta

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