Variant report

Variant	rs8010151
Chromosome Location	chr14:24423582-24423583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:24423152-24423678	MCF-7	breast:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
2	HCFC1	chr14:24422696-24423760	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr14:24423161-24423610	H1-hESC	embryonic stem cell:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
4	SP2	chr14:24422972-24423689	HepG2	liver:	n/a	n/a
5	MBD4	chr14:24422642-24423826	HepG2	liver:	n/a	n/a
6	RAD21	chr14:24423223-24423587	IMR90	lung:	n/a	chr14:24423408-24423427
7	CEBPB	chr14:24422846-24423653	HepG2	liver:	n/a	chr14:24423462-24423473
8	BCLAF1	chr14:24422706-24423635	GM12878	blood:	n/a	n/a
9	TEAD4	chr14:24422372-24423865	HepG2	liver:	n/a	n/a
10	MYBL2	chr14:24422368-24423806	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:24422677-24423628	PFSK-1	brain:	n/a	n/a
12	CTCF	chr14:24423215-24423612	K562	blood:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
13	SMC3	chr14:24423231-24423590	HepG2	liver:	n/a	chr14:24423412-24423426
14	POLR2A	chr14:24422395-24423602	SK-N-MC	brain:	n/a	n/a
15	MYBL2	chr14:24422110-24423826	HepG2	liver:	n/a	n/a
16	SP2	chr14:24422864-24423734	HepG2	liver:	n/a	n/a
17	POLR2A	chr14:24422758-24423649	HL-60	blood:	n/a	n/a
18	CTCF	chr14:24423006-24423672	MCF-7	breast:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
19	TAF1	chr14:24422813-24423614	A549	lung:	n/a	n/a
20	MYC	chr14:24422824-24423601	MCF10A-Er-Src	breast:	n/a	chr14:24423255-24423268 chr14:24423256-24423267 chr14:24423257-24423267 chr14:24423257-24423266 chr14:24423256-24423266 chr14:24423258-24423267 chr14:24423256-24423266 chr14:24423257-24423266 chr14:24423256-24423267 chr14:24423257-24423266 chr14:24423255-24423268 chr14:24423256-24423267 chr14:24423252-24423271 chr14:24423256-24423267 chr14:24423255-24423268 chr14:24423257-24423267
21	RAD21	chr14:24423174-24423596	HepG2	liver:	n/a	chr14:24423408-24423427
22	RAD21	chr14:24422848-24423587	H1-hESC	embryonic stem cell:	n/a	chr14:24423408-24423427
23	POLR2A	chr14:24422324-24423629	GM12892	blood:	n/a	n/a
24	MAZ	chr14:24422582-24423667	IMR90	lung:	n/a	chr14:24423255-24423268 chr14:24423256-24423267 chr14:24423257-24423267 chr14:24423257-24423266 chr14:24423256-24423266 chr14:24423258-24423267 chr14:24423256-24423266 chr14:24423257-24423266 chr14:24423256-24423267 chr14:24423257-24423266 chr14:24423255-24423268 chr14:24423256-24423267 chr14:24423252-24423271 chr14:24423256-24423267 chr14:24423255-24423268 chr14:24423257-24423267
25	POLR2A	chr14:24422112-24423712	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr14:24422723-24423866	A549	lung:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
27	ZNF143	chr14:24422792-24423598	GM12878	blood:	n/a	n/a
28	ZNF143	chr14:24423245-24423594	K562	blood:	n/a	n/a
29	ELF1	chr14:24423215-24423587	HepG2	liver:	n/a	n/a
30	RAD21	chr14:24423206-24423593	GM12878	blood:	n/a	chr14:24423408-24423427
31	CTCF	chr14:24423194-24423612	A549	lung:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
32	MXI1	chr14:24422437-24423693	IMR90	lung:	n/a	chr14:24423256-24423265 chr14:24423258-24423267
33	POLR2A	chr14:24421647-24423593	HepG2	liver:	n/a	n/a
34	RAD21	chr14:24423143-24423670	ECC-1	luminal epithelium:	n/a	chr14:24423408-24423427
35	CTCF	chr14:24423269-24423612	GM12878	blood:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
36	TCF12	chr14:24422728-24423702	A549	lung:	n/a	n/a
37	FOXM1	chr14:24423132-24423635	GM12878	blood:	n/a	n/a
38	RAD21	chr14:24423134-24423670	A549	lung:	n/a	chr14:24423408-24423427
39	FOXA2	chr14:24423143-24423583	A549	lung:	n/a	n/a
40	POLR2A	chr14:24422458-24423586	HepG2	liver:	n/a	n/a
41	CTCF	chr14:24422642-24423740	SK-N-SH	brain:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
42	CEBPB	chr14:24423214-24423650	Hela-S3	cervix:	n/a	chr14:24423462-24423473
43	RFX5	chr14:24423120-24423620	Hela-S3	cervix:	n/a	n/a
44	RAD21	chr14:24422588-24423631	HepG2	liver:	n/a	chr14:24422737-24422747 chr14:24423408-24423427
45	CEBPB	chr14:24423252-24423596	HepG2	liver:	n/a	chr14:24423462-24423473
46	CTCF	chr14:24423209-24423590	K562	blood:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
47	MTA3	chr14:24422698-24423672	GM12878	blood:	n/a	n/a
48	CTCF	chr14:24422909-24423625	HepG2	liver:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
49	FOXM1	chr14:24422854-24423760	GM12878	blood:	n/a	n/a
50	GABPA	chr14:24422690-24423628	MCF-7	breast:	n/a	chr14:24422903-24422912

No.	Distal block	Cell Line	Cell type
1	chr14:24197895..24200996-chr14:24421897..24424681,3	MCF-7	breast:
2	chr14:24036767..24038500-chr14:24420729..24424068,4	MCF-7	breast:
3	chr14:24421741..24423927-chr14:24582561..24584260,2	K562	blood:
4	chr14:24422701..24424551-chr14:24504249..24506129,2	MCF-7	breast:
5	chr1:186344468..186345047-chr14:24423051..24423847,2	MCF-7	breast:
6	chr14:24099084..24100809-chr14:24421080..24423663,2	MCF-7	breast:
7	chr14:24422915..24424427-chr14:24563237..24565374,2	MCF-7	breast:

Variant related genes	Relation type
DHRS4-AS1	TF binding region
ENSG00000100867	Chromatin interaction
ENSG00000047410	Chromatin interaction
ENSG00000258464	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000213983	Chromatin interaction
ENSG00000225766	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000157181	Chromatin interaction
ENSG00000100889	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 26 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10137990	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137992	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141091	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142568	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145440	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148822	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148823	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149094	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150939	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151793	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158470	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847840	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852080	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][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]
rs11852089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147221	1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17099424	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17099455	1.00[CEU][hapmap];1.00[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]
rs1885809	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1885810	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951736	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951737	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1957678	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273944	0.84[AMR][1000 genomes]
rs28670278	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28693392	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28828113	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28836502	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28856896	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28881586	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984817	1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35687405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4048603	0.82[AMR][1000 genomes]
rs4457918	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55897938	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56861678	0.89[ASN][1000 genomes]
rs57461315	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57901513	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57978986	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58329055	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58786866	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58909995	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58920623	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58941536	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59434518	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59484581	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60177702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60887662	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60901156	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60914253	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60939040	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61368402	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573470	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573471	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573472	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573473	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573474	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573484	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573485	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573486	0.94[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573487	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6573488	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7140888	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141234	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141463	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141633	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141804	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149475	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152712	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152902	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153995	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154783	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7156226	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7156624	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158222	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598764	1.00[ASN][1000 genomes]
rs73598777	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598781	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600716	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600717	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600730	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74036725	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74036727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74036728	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74036729	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003491	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003627	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004361	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004860	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007763	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009022	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009382	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009599	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011236	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323424	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323425	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323426	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323428	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9671445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671588	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671870	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671883	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805882	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805889	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806029	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1217	chr14:24400565-24512689	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv89	chr14:24405198-24475213	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
6	nsv564046	chr14:24412772-24480333	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1036970	chr14:24414285-24461842	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1045802	chr14:24414285-24484459	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers 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
9	nsv1039814	chr14:24414285-24489426	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1047294	chr14:24414285-24500633	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1039694	chr14:24414285-24500989	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv3310704	chr14:24420176-24454755	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3310705	chr14:24420176-24454755	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv9830	chr14:24420325-24423668	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv976811	chr14:24421381-24470070	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv2761633	chr14:24423582-24513917	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:26)

SNP	Gene	Cis/trans	Tissue	Source
rs8010151	DHRS4-AS1	cis	Adipose Subcutaneous	GTEx
rs8010151	DHRS4-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs8010151	DHRS4	cis	multi-tissue	Pritchard
rs8010151	DHRS4-AS1	cis	Artery Aorta	GTEx
rs8010151	DHRS4-AS1	cis	Esophagus Mucosa	GTEx
rs8010151	DHRS4-AS1	cis	Nerve Tibial	GTEx
rs8010151	DHRS4	cis	Adipose Subcutaneous	GTEx
rs8010151	DHRS4L2	cis	Adipose Subcutaneous	GTEx
rs8010151	DHRS4L2	cis	Artery Aorta	GTEx
rs8010151	DHRS4L2	cis	Artery Tibial	GTEx
rs8010151	DHRS4	cis	Nerve Tibial	GTEx
rs8010151	DHRS4L2	cis	Esophagus Muscularis	GTEx
rs8010151	DHRS4	cis	Artery Aorta	GTEx
rs8010151	DHRS4L2	cis	Nerve Tibial	GTEx
rs8010151	DHRS4L2	cis	Heart Left Ventricle	GTEx
rs8010151	DHRS4L2	cis	multi-tissue	Pritchard
rs8010151	DHRS4-AS1	cis	Thyroid	GTEx
rs8010151	DHRS4L2	cis	Muscle Skeletal	GTEx
rs8010151	DHRS4-AS1	cis	Esophagus Muscularis	GTEx
rs8010151	C14orf167	Cis_1M	lymphoblastoid	RTeQTL
rs8010151	DHRS4-AS1	cis	Whole Blood	GTEx
rs8010151	DHRS4-AS1	cis	Artery Tibial	GTEx
rs8010151	DHRS4-AS1	cis	Stomach	GTEx
rs8010151	DHRS4-AS1	cis	lung	GTEx
rs8010151	DHRS4	cis	Artery Tibial	GTEx
rs8010151	DHRS4	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24421000-24423800	Active TSS	K562	blood
2	chr14:24421200-24423800	Active TSS	Fetal Kidney	kidney
3	chr14:24421400-24423600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:24421400-24423600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:24421600-24424200	Active TSS	Duodenum Mucosa	Duodenum
6	chr14:24421800-24423800	Active TSS	GM12878-XiMat	blood
7	chr14:24421800-24424200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:24422000-24423600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:24422000-24423600	Active TSS	Fetal Lung	lung
10	chr14:24422000-24423800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr14:24422200-24423600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:24422200-24423600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:24422200-24423600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr14:24422200-24423600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:24422200-24423600	Active TSS	Brain Hippocampus Middle	brain
16	chr14:24422200-24423800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr14:24422200-24423800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr14:24422200-24423800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr14:24422200-24423800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr14:24422200-24423800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:24422200-24423800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:24422200-24423800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:24422200-24423800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:24422200-24423800	Active TSS	Brain Germinal Matrix	brain
25	chr14:24422200-24423800	Active TSS	A549	lung
26	chr14:24422200-24423800	Active TSS	HMEC	breast
27	chr14:24422200-24423800	Active TSS	HSMM	muscle
28	chr14:24422200-24424000	Active TSS	NHLF	lung
29	chr14:24422200-24424200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:24422400-24423600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:24422400-24423600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr14:24422400-24423600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr14:24422400-24423600	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr14:24422400-24423600	Flanking Active TSS	Placenta	Placenta
35	chr14:24422400-24423600	Active TSS	Ovary	ovary
36	chr14:24422400-24423600	Active TSS	Stomach Mucosa	stomach
37	chr14:24422400-24423600	Active TSS	HSMMtube	muscle
38	chr14:24422400-24423800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:24422400-24423800	Active TSS	Aorta	Aorta
40	chr14:24422400-24423800	Active TSS	NH-A	brain
41	chr14:24422400-24424000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:24422600-24423600	Active TSS	H1 Cell Line	embryonic stem cell
43	chr14:24422600-24423600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:24422600-24423600	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr14:24422600-24423600	Active TSS	Primary T cells from cord blood	blood
46	chr14:24422600-24423600	Active TSS	Brain Cingulate Gyrus	brain
47	chr14:24422600-24423600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr14:24422600-24423600	Active TSS	Brain Substantia Nigra	brain
49	chr14:24422600-24423600	Active TSS	Fetal Brain Male	brain
50	chr14:24422600-24423600	Active TSS	Lung	lung

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