Variant report

Variant	rs2250866
Chromosome Location	chr11:71804513-71804514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71804056-71805047	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:71804157-71805048	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr11:71804513-71804755	MCF-7	breast:	n/a	n/a
4	POLR2A	chr11:71804181-71805114	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:71803605-71805111	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:71801698-71805037	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:71804508-71804786	K562	blood:	n/a	n/a
8	POLR2A	chr11:71804137-71804852	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:71804177-71804883	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:71804242-71804863	K562	blood:	n/a	n/a
11	POLR2A	chr11:71804286-71805061	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:71804388-71804850	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:71804367-71804950	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:71800289-71805051	K562	blood:	n/a	n/a
15	POLR2A	chr11:71804248-71805314	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:71803125-71804821	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:71804116-71804976	GM12891	blood:	n/a	n/a
18	POLR2A	chr11:71804207-71804579	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:71802012-71804932	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr11:71804324-71804936	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:71804192-71805097	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:71721753..71723489-chr11:71803888..71805606,2	MCF-7	breast:
2	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
3	chr11:71791686..71794615-chr11:71803298..71806095,2	MCF-7	breast:

No data

Variant related genes	Relation type
LRTOMT	TF binding region
ENSG00000184154	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000206783	Chromatin interaction

Extended variants
information (count: 185 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs10128658	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10450664	0.91[GIH][hapmap]
rs10501408	0.87[CEU][hapmap];0.85[GIH][hapmap]
rs1055452	0.87[CEU][hapmap];0.82[YRI][hapmap]
rs1057992	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs10736781	0.88[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs10736783	0.82[CEU][hapmap]
rs10736786	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10751189	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.92[TSI][hapmap]
rs10751190	0.85[EUR][1000 genomes]
rs10751191	0.86[CEU][hapmap]
rs10751193	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793011	0.87[CEU][hapmap]
rs10793016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10898814	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11235440	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235441	0.87[CEU][hapmap]
rs12272213	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12283462	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12293195	0.87[CEU][hapmap]
rs12293885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1541304	0.87[CEU][hapmap]
rs1541306	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs1548348	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs1573500	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1573501	0.86[CEU][hapmap]
rs1573502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17161966	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[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];0.94[ASN][1000 genomes]
rs17161980	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[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];0.95[ASN][1000 genomes]
rs17161991	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1791544	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1806778	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1892919	0.90[EUR][1000 genomes]
rs1892920	0.87[CEU][hapmap]
rs1892921	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.94[YRI][hapmap];0.85[EUR][1000 genomes]
rs1894003	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1894004	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs1939242	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939243	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1939245	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1939247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2155142	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2187496	1.00[CEU][hapmap];0.80[JPT][hapmap]
rs2276384	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2298456	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2298457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs2503	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2508856	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2511074	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2511075	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511076	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2511078	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511121	0.82[ASN][1000 genomes]
rs2511122	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2845857	0.90[EUR][1000 genomes]
rs28504107	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3018301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3018302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs3018304	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3018308	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3018310	0.82[CEU][hapmap]
rs3133230	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3133233	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3750908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3793938	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3814721	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs3829215	0.87[GIH][hapmap]
rs3886589	0.81[EUR][1000 genomes]
rs4121395	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs4338555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4387373	0.87[CEU][hapmap]
rs4479013	0.81[EUR][1000 genomes]
rs482013	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs493065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4943821	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944232	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs4944242	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs4944243	0.86[CEU][hapmap]
rs4944258	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4944259	0.82[ASN][1000 genomes]
rs4945378	0.87[CEU][hapmap]
rs4945392	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs4945426	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4945434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4945435	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs495567	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs510925	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[LWK][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs517837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs542752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs547208	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs548961	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs552966	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs560777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56097487	0.83[EUR][1000 genomes]
rs567026	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs57025151	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs575831	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs575871	0.87[CEU][hapmap]
rs577435	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs579320	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs585228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58991229	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs595062	0.87[CEU][hapmap]
rs597513	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs598835	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607446	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs610004	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610041	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs612255	0.86[CEU][hapmap]
rs615000	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627329	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs636946	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs642573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs642618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs656640	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592447	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs6592448	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs6592449	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs6592450	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.87[JPT][hapmap];0.92[TSI][hapmap]
rs6592451	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs6592453	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.85[EUR][1000 genomes]
rs6592455	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.85[EUR][1000 genomes]
rs6592456	0.87[CEU][hapmap]
rs6592457	0.87[CEU][hapmap]
rs6592458	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592459	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs659513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs661290	0.87[CEU][hapmap];0.83[YRI][hapmap]
rs670802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs671681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs673478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[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];0.98[ASN][1000 genomes]
rs675185	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs676721	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs677279	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs678193	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs679926	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs686340	0.87[CEU][hapmap]
rs7101701	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7102192	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs7103210	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs7106730	0.85[CEU][hapmap]
rs7111379	0.87[CEU][hapmap]
rs7113436	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs7113549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7115513	0.87[CEU][hapmap]
rs7116188	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7116495	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7121080	0.86[CEU][hapmap]
rs7121260	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs7123102	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7123992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs7124000	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126394	0.87[CEU][hapmap]
rs7126838	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7127865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7128317	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.85[EUR][1000 genomes]
rs7128974	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.85[EUR][1000 genomes]
rs73531952	0.85[EUR][1000 genomes]
rs73539529	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73539532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543609	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543633	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7480015	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7924516	0.81[EUR][1000 genomes]
rs7924834	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs7925411	0.91[GIH][hapmap]
rs7925604	0.86[CEU][hapmap]
rs7930142	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7930544	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7930721	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7930722	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7931941	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.85[TSI][hapmap]
rs7937515	0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs7937582	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7948821	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs7949480	0.85[EUR][1000 genomes]
rs947932	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs949323	0.86[CEU][hapmap];0.96[GIH][hapmap];0.83[YRI][hapmap]
rs949325	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs949326	0.87[CEU][hapmap];0.91[GIH][hapmap]

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
rs2250866	NUMA1	cis	uninvolved skin	skin_eQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71792400-71805200	Weak transcription	HSMMtube	muscle
2	chr11:71792400-71805800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:71792600-71804800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:71792600-71805400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:71792600-71805400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:71792600-71805400	Weak transcription	Colonic Mucosa	Colon
7	chr11:71792600-71805600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:71792600-71805600	Weak transcription	Esophagus	oesophagus
9	chr11:71792600-71805600	Weak transcription	Pancreas	Pancrea
10	chr11:71792600-71808800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:71792600-71809000	Weak transcription	Psoas Muscle	Psoas
12	chr11:71792600-71812800	Weak transcription	Fetal Heart	heart
13	chr11:71792600-71813200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:71792800-71804600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:71792800-71808200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:71792800-71808200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:71793000-71808400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:71793200-71808400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:71793400-71805400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:71796400-71807600	Weak transcription	HMEC	breast
21	chr11:71797000-71805600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:71797400-71808000	Weak transcription	Fetal Kidney	kidney
23	chr11:71798000-71812200	Weak transcription	Fetal Brain Male	brain
24	chr11:71798200-71805600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:71800000-71805600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:71800200-71805400	Weak transcription	NH-A	brain
27	chr11:71800200-71805600	Weak transcription	Ovary	ovary
28	chr11:71800400-71812000	Strong transcription	Primary T cells from cord blood	blood
29	chr11:71801400-71805600	Weak transcription	NHDF-Ad	bronchial
30	chr11:71801600-71804600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:71801600-71804600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:71801600-71805200	Weak transcription	Spleen	Spleen
33	chr11:71801600-71805400	Weak transcription	Fetal Brain Female	brain
34	chr11:71802000-71804600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:71802000-71804600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:71802000-71804800	Weak transcription	Thymus	Thymus
37	chr11:71802200-71804600	Weak transcription	NHEK	skin
38	chr11:71802200-71805600	Weak transcription	Hela-S3	cervix
39	chr11:71802400-71804600	Weak transcription	Dnd41	blood
40	chr11:71802400-71805600	Weak transcription	HSMM	muscle
41	chr11:71802600-71805600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:71802600-71805600	Weak transcription	Lung	lung
43	chr11:71802800-71804600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:71802800-71804800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:71802800-71805200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:71802800-71805200	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:71802800-71805400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:71802800-71805400	Weak transcription	Left Ventricle	heart
49	chr11:71802800-71805600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:71802800-71805600	Weak transcription	Stomach Mucosa	stomach

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