Variant report

Variant	rs3742971
Chromosome Location	chr15:43622916-43622917
allele	C/T
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	POLR2A	chr15:43622100-43623100	HUVEC	blood vessel:	n/a	n/a
2	MTA3	chr15:43622333-43623128	GM12878	blood:	n/a	n/a
3	HEY1	chr15:43622232-43623107	HepG2	liver:	n/a	n/a
4	TBP	chr15:43622330-43623582	Hela-S3	cervix:	n/a	n/a
5	EP300	chr15:43621959-43623217	ECC-1	luminal epithelium:	n/a	chr15:43622826-43622833
6	POLR2A	chr15:43622198-43623182	SK-N-MC	brain:	n/a	n/a
7	MAX	chr15:43621774-43623049	K562	blood:	n/a	n/a
8	POLR2A	chr15:43622193-43623157	HepG2	liver:	n/a	n/a
9	HEY1	chr15:43621897-43623192	K562	blood:	n/a	n/a
10	HEY1	chr15:43622146-43623190	HepG2	liver:	n/a	n/a
11	SREBP2	chr15:43621854-43623679	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:43622095-43623110	K562	blood:	n/a	n/a
13	MAX	chr15:43621968-43623152	MCF-7	breast:	n/a	n/a
14	STAT5A	chr15:43622283-43623144	GM12878	blood:	n/a	chr15:43622827-43622836 chr15:43622822-43622842 chr15:43622828-43622837 chr15:43622822-43622842 chr15:43622828-43622836 chr15:43623010-43623021
15	STAT1	chr15:43622283-43623015	GM12878	blood:	n/a	chr15:43622827-43622836 chr15:43622822-43622842 chr15:43622828-43622837 chr15:43622822-43622842 chr15:43622828-43622836
16	CEBPB	chr15:43622400-43623240	Hela-S3	cervix:	n/a	n/a
17	MYC	chr15:43622513-43622986	MCF-7	breast:	n/a	n/a
18	CREB1	chr15:43621724-43623112	H1-hESC	embryonic stem cell:	n/a	n/a
19	CREB1	chr15:43621793-43623204	H1-hESC	embryonic stem cell:	n/a	n/a
20	RCOR1	chr15:43622351-43623090	HepG2	liver:	n/a	n/a
21	POLR2A	chr15:43622148-43623153	SK-N-SH	brain:	n/a	n/a
22	GABPA	chr15:43622408-43623007	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:43620770-43623194	K562	blood:	n/a	n/a
24	ELF1	chr15:43622274-43623124	MCF-7	breast:	n/a	chr15:43622797-43622808 chr15:43622825-43622836 chr15:43622826-43622835 chr15:43622825-43622836
25	ATF2	chr15:43622279-43623055	GM12878	blood:	n/a	n/a
26	E2F4	chr15:43621990-43623064	Hela-S3	cervix:	n/a	chr15:43622437-43622448
27	POLR2A	chr15:43621900-43623162	HEK293	kidney:	n/a	n/a
28	POLR2A	chr15:43621953-43623314	PANC-1	pancreas:	n/a	n/a
29	MXI1	chr15:43622159-43623251	Hela-S3	cervix:	n/a	n/a
30	REST	chr15:43621406-43623418	H1-neurons	neurons:	n/a	chr15:43623129-43623143
31	ZC3H11A	chr15:43622803-43623158	K562	blood:	n/a	n/a
32	MAX	chr15:43622388-43623133	H1-hESC	embryonic stem cell:	n/a	n/a
33	MBD4	chr15:43622557-43623081	HepG2	liver:	n/a	n/a
34	E2F6	chr15:43622690-43622972	K562	blood:	n/a	n/a
35	RUNX3	chr15:43621857-43623193	GM12878	blood:	n/a	n/a
36	TAF1	chr15:43622404-43622932	GM12892	blood:	n/a	n/a
37	SIN3AK20	chr15:43622502-43623150	H1-hESC	embryonic stem cell:	n/a	n/a
38	YY1	chr15:43622183-43623111	K562	blood:	n/a	n/a
39	GABPA	chr15:43622409-43622999	GM12878	blood:	n/a	n/a
40	POLR2A	chr15:43622077-43623199	GM12878	blood:	n/a	n/a
41	PAX5	chr15:43622409-43622942	GM12878	blood:	n/a	chr15:43622717-43622726
42	MYBL2	chr15:43622088-43623080	HepG2	liver:	n/a	n/a
43	FOXM1	chr15:43622215-43623158	GM12878	blood:	n/a	n/a
44	TBP	chr15:43621635-43623291	K562	blood:	n/a	n/a
45	JUND	chr15:43622277-43623107	H1-hESC	embryonic stem cell:	n/a	n/a
46	E2F6	chr15:43622068-43623069	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAFK	chr15:43622708-43622982	HepG2	liver:	n/a	n/a
48	CEBPD	chr15:43622531-43623017	HepG2	liver:	n/a	n/a
49	GABPA	chr15:43622509-43622954	Hela-S3	cervix:	n/a	n/a
50	ELF1	chr15:43622333-43622980	K562	blood:	n/a	chr15:43622797-43622808 chr15:43622825-43622836 chr15:43622826-43622835 chr15:43622825-43622836

No.	Distal block	Cell Line	Cell type
1	chr15:43397435..43400079-chr15:43619938..43624138,3	K562	blood:
2	chr15:43621803..43624734-chr15:43667473..43669999,2	K562	blood:
3	chr15:43620805..43624764-chr15:43626235..43634573,14	K562	blood:
4	chr15:43476272..43478901-chr15:43620777..43622927,4	K562	blood:
5	chr15:43621078..43623590-chr15:43801793..43804270,2	MCF-7	breast:
6	chr15:43622512..43623300-chr3:14988494..14989255,2	Hela-S3	cervix:
7	chr15:43622340..43623012-chr16:27214629..27215612,2	Hela-S3	cervix:
8	chr15:43618581..43624264-chr15:43661265..43664929,7	MCF-7	breast:
9	chr15:43621444..43623700-chr15:43661759..43663409,2	MCF-7	breast:
10	chr15:43622378..43623375-chr3:73160072..73160592,2	Hela-S3	cervix:
11	chr15:43619535..43624096-chr15:43662038..43665421,4	K562	blood:
12	chr15:43621044..43624825-chr15:43626235..43637209,16	K562	blood:
13	chr15:43500155..43503014-chr15:43621772..43625357,3	K562	blood:
14	chr15:43622697..43623448-chr6:26103718..26104631,2	Hela-S3	cervix:
15	chr15:43620486..43624109-chr15:43661175..43665421,4	K562	blood:
16	chr1:22109386..22110022-chr15:43622257..43623111,2	Hela-S3	cervix:
17	chr15:43479061..43481710-chr15:43621878..43623729,2	K562	blood:
18	chr15:43512947..43514821-chr15:43621121..43624112,2	K562	blood:
19	chr15:43622327..43623006-chr7:26240757..26241505,2	Hela-S3	cervix:

Variant related genes	Relation type
ADAL	TF binding region
LCMT2	TF binding region
ENSG00000122565	Chromatin interaction
ENSG00000166947	Chromatin interaction
ENSG00000067369	Chromatin interaction
ENSG00000166946	Chromatin interaction
ENSG00000155666	Chromatin interaction
ENSG00000090686	Chromatin interaction
ENSG00000159459	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000197061	Chromatin interaction
ENSG00000140265	Chromatin interaction
ENSG00000137822	Chromatin interaction
ENSG00000166963	Chromatin interaction
ENSG00000261687	Chromatin interaction
ENSG00000168803	Chromatin interaction
ENSG00000225733	Chromatin interaction
ENSG00000177463	Chromatin interaction

Extended variants
information (count: 158 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs1095386	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11070399	0.99[ASN][1000 genomes]
rs1123947	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1133395	0.99[ASN][1000 genomes]
rs11637572	0.91[CHB][hapmap]
rs11858152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12101673	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12102205	0.99[ASN][1000 genomes]
rs12148735	0.88[ASN][1000 genomes]
rs12323999	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12324572	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12324584	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12440854	0.89[EUR][1000 genomes]
rs12905772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1549523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549525	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16957627	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16957630	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16957632	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1814538	0.88[CEU][hapmap];0.89[GIH][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap]
rs1837959	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs1837960	0.81[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.81[MEX][hapmap];0.95[MKK][hapmap];0.81[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2012467	0.88[ASN][1000 genomes]
rs2242068	0.83[ASN][1000 genomes]
rs2242069	0.81[ASW][hapmap];0.84[GIH][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap]
rs2243434	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2244746	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2245664	0.80[AMR][1000 genomes]
rs2245715	0.86[MEX][hapmap];0.91[TSI][hapmap]
rs2245908	0.80[AMR][1000 genomes]
rs2253708	0.88[CEU][hapmap];0.95[YRI][hapmap]
rs2254321	0.82[AMR][1000 genomes]
rs2254325	0.82[AMR][1000 genomes]
rs2264876	0.92[GIH][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap]
rs2278856	0.99[ASN][1000 genomes]
rs2278857	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2278858	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2278859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2278860	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2412778	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2412779	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2412780	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2412781	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2412782	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2439831	0.88[CEU][hapmap];0.89[GIH][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap]
rs2439832	0.92[GIH][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap]
rs2439841	0.82[AMR][1000 genomes]
rs2439850	0.86[CEU][hapmap]
rs2444028	0.80[AMR][1000 genomes]
rs2444029	0.80[AMR][1000 genomes]
rs2444032	0.88[CEU][hapmap];0.89[GIH][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap]
rs2444036	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2444247	0.80[AMR][1000 genomes]
rs2444250	0.88[CEU][hapmap]
rs2467733	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2467736	0.88[CEU][hapmap];0.89[GIH][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap]
rs2467739	0.88[CEU][hapmap];0.84[GIH][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap]
rs2584700	0.82[ASN][1000 genomes]
rs2584701	0.91[ASN][1000 genomes]
rs2584702	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2584703	0.85[ASN][1000 genomes]
rs2584726	0.80[AMR][1000 genomes]
rs28415933	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28461955	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28578454	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28594657	0.83[EUR][1000 genomes]
rs28653441	0.94[ASN][1000 genomes]
rs28702649	0.99[ASN][1000 genomes]
rs28729853	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28758627	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2899082	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213990	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3213991	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742969	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs3809481	0.88[CEU][hapmap];0.84[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3809482	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4075674	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4296223	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4401024	0.97[ASN][1000 genomes]
rs4547312	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4583210	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs471229	0.80[AMR][1000 genomes]
rs478028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs478104	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs484029	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484846	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs485148	0.83[ASN][1000 genomes]
rs488756	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.84[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs491648	0.86[AMR][1000 genomes]
rs491800	0.85[ASN][1000 genomes]
rs495175	0.88[CEU][hapmap]
rs498837	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs499035	0.93[ASN][1000 genomes]
rs507178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs510108	0.93[ASN][1000 genomes]
rs511673	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512628	1.00[ASN][1000 genomes]
rs524527	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs526450	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs527921	0.88[CEU][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap]
rs528517	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs537115	0.84[GIH][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap]
rs538238	0.86[CHD][hapmap]
rs540031	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs544122	0.88[CEU][hapmap]
rs550239	0.80[AMR][1000 genomes]
rs552701	0.98[ASN][1000 genomes]
rs558656	0.82[AMR][1000 genomes]
rs565007	0.80[AMR][1000 genomes]
rs573615	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs576557	0.90[ASN][1000 genomes]
rs6493081	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6493082	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493083	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6493084	0.99[ASN][1000 genomes]
rs6493085	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493086	0.99[ASN][1000 genomes]
rs6493087	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6493088	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs689647	0.88[CEU][hapmap];0.89[GIH][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];0.92[TSI][hapmap]
rs689754	0.87[CEU][hapmap]
rs689781	0.88[CEU][hapmap];0.89[GIH][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.92[TSI][hapmap]
rs689826	0.88[CEU][hapmap]
rs689835	0.88[CEU][hapmap]
rs690038	0.82[AMR][1000 genomes]
rs690263	0.80[AMR][1000 genomes]
rs690316	0.81[ASW][hapmap];0.88[CEU][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];0.80[AMR][1000 genomes]
rs690436	0.88[CEU][hapmap];0.89[GIH][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap]
rs694985	0.88[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap]
rs7163245	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7163288	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap]
rs7165471	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7166812	0.99[ASN][1000 genomes]
rs7167882	0.91[ASN][1000 genomes]
rs7168940	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7169790	0.83[AMR][1000 genomes]
rs7170152	0.91[ASN][1000 genomes]
rs7170489	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7172374	0.91[ASN][1000 genomes]
rs7173487	0.88[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs7175434	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7176849	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.91[ASN][1000 genomes]
rs8033714	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8039638	0.94[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8041132	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8042688	0.99[ASN][1000 genomes]
rs825739	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs825740	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs884704	0.94[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];0.81[MEX][hapmap];0.96[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs933941	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs956391	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9920879	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs999026	0.88[ASN][1000 genomes]
rs999047	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1512	chr15:43616834-43661646	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs3742971	CKMT1A	cis	Esophagus Mucosa	GTEx
rs3742971	ADAL	cis	multi-tissue	Pritchard
rs3742971	TGM5	cis	Lymphoblastoid	GTEx
rs3742971	SERF2	cis	lymphoblastoid	seeQTL
rs3742971	ADAL	cis	Heart Left Ventricle	GTEx
rs3742971	ADAL	cis	Liver	GTEx
rs3742971	ADAL	cis	Esophagus Muscularis	GTEx
rs3742971	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs3742971	ADAL	cis	Muscle Skeletal	GTEx
rs3742971	TGM5	cis	multi-tissue	Pritchard
rs3742971	ADAL	cis	Thyroid	GTEx
rs3742971	ADAL	cis	Artery Aorta	GTEx
rs3742971	ELL3	cis	lymphoblastoid	seeQTL
rs3742971	TGM5	cis	lymphoblastoid	seeQTL
rs3742971	ADAL	cis	Esophagus Mucosa	GTEx
rs3742971	ADAL	cis	Artery Tibial	GTEx
rs3742971	ADAL	cis	cerebellum	SCAN
rs3742971	CATSPER2	cis	multi-tissue	Pritchard
rs3742971	ADAL	cis	Nerve Tibial	GTEx
rs3742971	ADAL	cis	Adipose Subcutaneous	GTEx
rs3742971	ADAL	cis	parietal	SCAN
rs3742971	ADAL	cis	Stomach	GTEx
rs3742971	LOC440278	cis	multi-tissue	Pritchard
rs3742971	ADAL	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43620800-43624000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:43621200-43623200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr15:43621200-43623400	Active TSS	Aorta	Aorta
4	chr15:43621200-43623800	Active TSS	Psoas Muscle	Psoas
5	chr15:43621400-43623400	Active TSS	A549	lung
6	chr15:43621400-43623400	Flanking Active TSS	HUVEC	blood vessel
7	chr15:43621400-43623800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:43621600-43623200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:43621600-43623200	Active TSS	Ovary	ovary
10	chr15:43621600-43623400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr15:43621600-43623400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:43621600-43623400	Active TSS	Rectal Smooth Muscle	rectum
13	chr15:43621600-43623600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr15:43621600-43623600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:43621600-43623800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr15:43621800-43623000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:43621800-43623000	Active TSS	Esophagus	oesophagus
18	chr15:43621800-43623000	Active TSS	Fetal Brain Male	brain
19	chr15:43621800-43623000	Active TSS	Fetal Brain Female	brain
20	chr15:43621800-43623200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr15:43621800-43623200	Active TSS	Brain Cingulate Gyrus	brain
22	chr15:43621800-43623200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr15:43621800-43623200	Active TSS	Fetal Intestine Large	intestine
24	chr15:43621800-43623200	Active TSS	Fetal Kidney	kidney
25	chr15:43621800-43623200	Active TSS	Fetal Lung	lung
26	chr15:43621800-43623200	Active TSS	Gastric	stomach
27	chr15:43621800-43623200	Active TSS	Lung	lung
28	chr15:43621800-43623200	Active TSS	Pancreas	Pancrea
29	chr15:43621800-43623200	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr15:43621800-43623200	Active TSS	Small Intestine	intestine
31	chr15:43621800-43623200	Active TSS	Stomach Mucosa	stomach
32	chr15:43621800-43623200	Active TSS	NHEK	skin
33	chr15:43621800-43623400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr15:43621800-43623400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:43621800-43623400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr15:43621800-43623400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:43621800-43623400	Active TSS	K562	blood
38	chr15:43621800-43623400	Active TSS	NHLF	lung
39	chr15:43621800-43623600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:43621800-43623600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:43621800-43623600	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr15:43621800-43623600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:43621800-43623600	Active TSS	Fetal Intestine Small	intestine
44	chr15:43621800-43623600	Active TSS	Left Ventricle	heart
45	chr15:43621800-43623600	Active TSS	Right Atrium	heart
46	chr15:43621800-43623600	Active TSS	Right Ventricle	heart
47	chr15:43621800-43623600	Active TSS	NHDF-Ad	bronchial
48	chr15:43621800-43623800	Active TSS	H1 Cell Line	embryonic stem cell
49	chr15:43621800-43623800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:43621800-43623800	Active TSS	iPS-18 Cell Line	embryonic stem cell

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