Variant report

Variant	rs2508856
Chromosome Location	chr11:71811643-71811644
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	chr11:71811496-71811923	ECC-1	luminal epithelium:	n/a	n/a
2	BHLHE40	chr11:71811616-71811941	K562	blood:	n/a	n/a
3	RCOR1	chr11:71811296-71811820	K562	blood:	n/a	n/a
4	POLR2A	chr11:71811077-71811963	GM12878	blood:	n/a	n/a
5	SPI1	chr11:71811377-71812124	HL-60	blood:	n/a	chr11:71811722-71811731
6	POLR2A	chr11:71810655-71811996	HL-60	blood:	n/a	n/a
7	POLR2A	chr11:71811618-71812790	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr11:71811592-71811902	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAFK	chr11:71811407-71811753	HepG2	liver:	n/a	chr11:71811667-71811681 chr11:71811666-71811682 chr11:71811554-71811569 chr11:71811670-71811680 chr11:71811668-71811677
10	POLR2A	chr11:71811131-71812144	HL-60	blood:	n/a	n/a
11	TAF1	chr11:71811638-71811904	K562	blood:	n/a	n/a
12	ZBTB7A	chr11:71811544-71811845	K562	blood:	n/a	n/a
13	MAFF	chr11:71811378-71811869	K562	blood:	n/a	chr11:71811667-71811681 chr11:71811553-71811571
14	ZMIZ1	chr11:71811638-71811866	K562	blood:	n/a	n/a
15	POLR2A	chr11:71811165-71815433	GM12891	blood:	n/a	n/a
16	SPI1	chr11:71811509-71811933	HL-60	blood:	n/a	chr11:71811722-71811731
17	POLR2A	chr11:71811165-71815380	PFSK-1	brain:	n/a	n/a
18	MYC	chr11:71811609-71812022	NB4	blood:	n/a	n/a
19	POLR2A	chr11:71811598-71811740	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr11:71811286-71811898	K562	blood:	n/a	chr11:71811741-71811757 chr11:71811799-71811808
21	POLR2A	chr11:71811508-71811974	K562	blood:	n/a	n/a
22	POLR2A	chr11:71810767-71811976	K562	blood:	n/a	n/a
23	POLR2A	chr11:71811294-71815346	GM12878	blood:	n/a	n/a
24	MAFK	chr11:71811516-71811709	Hela-S3	cervix:	n/a	chr11:71811667-71811681 chr11:71811666-71811682 chr11:71811554-71811569 chr11:71811670-71811680 chr11:71811668-71811677
25	POLR2A	chr11:71811272-71815061	K562	blood:	n/a	n/a
26	POLR2A	chr11:71811295-71815309	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr11:71810584-71811806	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFK	chr11:71811496-71811748	IMR90	lung:	n/a	chr11:71811667-71811681 chr11:71811666-71811682 chr11:71811554-71811569 chr11:71811670-71811680 chr11:71811668-71811677
29	HEY1	chr11:71811529-71811831	K562	blood:	n/a	n/a
30	POLR2A	chr11:71811294-71814993	PBDE	blood:	n/a	n/a
31	POLR2A	chr11:71808442-71812800	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:71811125-71811958	K562	blood:	n/a	n/a
33	SPI1	chr11:71811581-71811920	GM12878	blood:	n/a	chr11:71811722-71811731
34	POLR2A	chr11:71811462-71811977	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr11:71811426-71811932	K562	blood:	n/a	n/a
36	POLR2A	chr11:71811290-71815198	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:71811084-71815426	HUVEC	blood vessel:	n/a	n/a
38	ELF1	chr11:71811294-71811913	K562	blood:	n/a	n/a
39	MAFK	chr11:71811383-71811787	HepG2	liver:	n/a	chr11:71811667-71811681 chr11:71811666-71811682 chr11:71811554-71811569 chr11:71811670-71811680 chr11:71811668-71811677
40	POLR2A	chr11:71811486-71811950	K562	blood:	n/a	n/a
41	WRNIP1	chr11:71811538-71811914	GM12878	blood:	n/a	n/a
42	MAZ	chr11:71811517-71811904	K562	blood:	n/a	n/a
43	POLR2A	chr11:71811045-71815530	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr11:71811428-71811894	K562	blood:	n/a	n/a
45	TAL1	chr11:71811199-71811871	K562	blood:	n/a	chr11:71811717-71811735
46	MYC	chr11:71811521-71811930	K562	blood:	n/a	n/a
47	POLR2A	chr11:71811206-71815217	K562	blood:	n/a	n/a
48	MAFK	chr11:71811374-71811859	K562	blood:	n/a	chr11:71811667-71811681 chr11:71811666-71811682 chr11:71811554-71811569 chr11:71811670-71811680 chr11:71811668-71811677
49	JUND	chr11:71811447-71811887	K562	blood:	n/a	chr11:71811669-71811679 chr11:71811670-71811678 chr11:71811668-71811680
50	MAFF	chr11:71811443-71811731	HepG2	liver:	n/a	chr11:71811667-71811681 chr11:71811553-71811571

No.	Distal block	Cell Line	Cell type
1	chr11:71749829..71754834-chr11:71810770..71817366,12	MCF-7	breast:
2	chr11:71747688..71754289-chr11:71810930..71816696,13	MCF-7	breast:
3	chr11:71791097..71793532-chr11:71809805..71812079,4	MCF-7	breast:
4	chr11:71810891..71813222-chr11:71944678..71946447,2	MCF-7	breast:
5	chr11:71747646..71754177-chr11:71811554..71816654,6	K562	blood:
6	chr11:71795514..71800060-chr11:71810684..71814982,4	MCF-7	breast:
7	chr11:71789323..71798359-chr11:71810049..71815293,14	MCF-7	breast:
8	chr11:71808840..71811674-chr11:71882236..71884134,2	MCF-7	breast:

Variant related genes	Relation type
LAMTOR1	TF binding region
ENSG00000238768	TF binding region
ENSG00000184154	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000255860	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000212089	Chromatin interaction

Extended variants
information (count: 165 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs10128658	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs10450664	0.87[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs10501408	0.89[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1055452	1.00[CEU][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap]
rs1057992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10736780	0.85[ASN][1000 genomes]
rs10736781	0.91[GIH][hapmap]
rs10736783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10751188	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10751189	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs10751191	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10751192	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793011	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793013	0.85[ASN][1000 genomes]
rs10793014	0.85[ASN][1000 genomes]
rs10793015	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793016	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs10898812	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235440	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs11235441	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235444	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12272086	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12272213	0.87[CEU][hapmap];0.84[JPT][hapmap]
rs12275171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12293195	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293885	0.87[CEU][hapmap]
rs12417471	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1541304	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1541306	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs1548348	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1573501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1573502	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs1573503	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17161751	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17161966	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs17161980	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs1892920	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1892921	0.87[CEU][hapmap]
rs1894004	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1939242	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs1939243	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs1939247	0.87[CEU][hapmap]
rs2155142	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.85[ASN][1000 genomes]
rs2155145	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2155146	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2187496	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs2250866	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2276384	0.89[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2276396	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298456	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2298457	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2508860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511079	0.87[CEU][hapmap];0.81[GIH][hapmap];0.80[MEX][hapmap]
rs2511114	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs2511120	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2735787	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2845860	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2852365	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2885880	0.83[JPT][hapmap]
rs3018301	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs3018302	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs3018310	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3750907	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3750908	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs3793938	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs3814721	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs3829215	0.92[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4121395	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs4245463	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4338555	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs4378421	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4387373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4399349	0.83[ASN][1000 genomes]
rs4412771	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4477459	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs482197	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs493065	0.87[CEU][hapmap]
rs4943821	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs4944232	0.87[CEU][hapmap];0.91[GIH][hapmap];0.81[YRI][hapmap]
rs4944242	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs4944243	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4945378	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4945392	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4945426	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs4945434	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs510925	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes]
rs541022	0.87[CEU][hapmap];0.95[GIH][hapmap]
rs541228	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs552966	0.87[CEU][hapmap]
rs560777	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs56255748	0.85[ASN][1000 genomes]
rs564294	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs567026	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs575831	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs575871	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs577435	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs579320	0.86[CEU][hapmap]
rs58417942	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs585228	0.86[CEU][hapmap]
rs595062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60054591	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs607446	0.87[CEU][hapmap]
rs610004	0.87[CEU][hapmap]
rs610041	0.87[CEU][hapmap]
rs612255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs628025	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs642573	0.87[CEU][hapmap]
rs642618	0.87[CEU][hapmap]
rs645603	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592447	0.89[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];0.93[YRI][hapmap];0.85[ASN][1000 genomes]
rs6592448	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs6592449	0.87[CEU][hapmap]
rs6592450	0.87[CEU][hapmap];0.87[GIH][hapmap]
rs6592451	1.00[CEU][hapmap];0.91[GIH][hapmap]
rs6592453	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs6592455	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs6592456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6592457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs659513	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs661290	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs671132	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs671681	0.87[CEU][hapmap]
rs673478	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs674319	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs679926	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs686340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7101553	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7102192	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs7102523	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7103210	0.86[CEU][hapmap]
rs7106653	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7106730	1.00[CEU][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs7111379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7113436	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7113520	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7113549	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs7115513	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7121080	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7121260	0.87[CEU][hapmap];0.82[GIH][hapmap]
rs7123992	0.82[CEU][hapmap]
rs7126394	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7127865	0.87[CEU][hapmap]
rs7128317	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs7128974	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs73531955	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73543612	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73543635	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73543640	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73543643	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7924834	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[ASN][1000 genomes]
rs7925411	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs7925604	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs7930142	0.92[YRI][hapmap]
rs7930544	0.86[CEU][hapmap]
rs7931941	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs7937515	0.85[JPT][hapmap]
rs7942626	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7948821	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs7951564	0.81[ASN][1000 genomes]
rs947932	0.87[CEU][hapmap]
rs949323	1.00[CEU][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs949326	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9666346	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2508856	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71792600-71812800	Weak transcription	Fetal Heart	heart
2	chr11:71792600-71813200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:71798000-71812200	Weak transcription	Fetal Brain Male	brain
4	chr11:71800400-71812000	Strong transcription	Primary T cells from cord blood	blood
5	chr11:71804000-71812800	Strong transcription	Fetal Stomach	stomach
6	chr11:71804200-71811800	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr11:71804200-71812200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:71804200-71812200	Strong transcription	Fetal Intestine Large	intestine
9	chr11:71804400-71811800	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:71804400-71811800	Strong transcription	NHLF	lung
11	chr11:71804400-71812800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:71804400-71812800	Strong transcription	A549	lung
13	chr11:71804600-71811800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:71804600-71812600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:71804800-71812000	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr11:71805600-71811800	Strong transcription	HSMM	muscle
17	chr11:71807400-71812200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:71807400-71812400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:71807600-71812800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:71807800-71812200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:71808000-71812400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:71808000-71812400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:71808000-71812600	Strong transcription	Fetal Lung	lung
24	chr11:71808400-71812800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:71809400-71813000	Genic enhancers	Placenta	Placenta
26	chr11:71809400-71813200	Genic enhancers	Right Ventricle	heart
27	chr11:71809600-71812000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:71809800-71812800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:71810000-71812200	Weak transcription	Stomach Mucosa	stomach
30	chr11:71810000-71812600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:71810000-71812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:71810000-71812800	Genic enhancers	Esophagus	oesophagus
33	chr11:71810000-71813000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:71810000-71813200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:71810200-71811800	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr11:71810200-71811800	Weak transcription	HSMMtube	muscle
37	chr11:71810200-71812200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr11:71810200-71812400	Genic enhancers	Primary B cells from cord blood	blood
39	chr11:71810200-71812400	Genic enhancers	Stomach Smooth Muscle	stomach
40	chr11:71810200-71812800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr11:71810200-71813000	Weak transcription	Aorta	Aorta
42	chr11:71810200-71813200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
43	chr11:71810200-71813400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:71810400-71812200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:71810400-71812400	Genic enhancers	Adipose Nuclei	Adipose
46	chr11:71810400-71812400	Genic enhancers	Brain Hippocampus Middle	brain
47	chr11:71810400-71812400	Weak transcription	Small Intestine	intestine
48	chr11:71810400-71812600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:71810400-71812800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:71810400-71813000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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