Variant report

Variant	rs493065
Chromosome Location	chr11:71796929-71796930
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	USF1	chr11:71796916-71797160	HepG2	liver:	n/a	chr11:71797068-71797079
2	POLR2A	chr11:71796863-71797459	HepG2	liver:	n/a	n/a
3	USF1	chr11:71796826-71797302	A549	lung:	n/a	chr11:71797068-71797079
4	USF1	chr11:71796840-71797307	ECC-1	luminal epithelium:	n/a	chr11:71797068-71797079
5	USF1	chr11:71796906-71797245	A549	lung:	n/a	chr11:71797068-71797079
6	USF1	chr11:71796929-71797254	SK-N-SH_RA	brain:	n/a	chr11:71797068-71797079
7	USF1	chr11:71796892-71797262	SK-N-SH	brain:	n/a	chr11:71797068-71797079
8	POLR2A	chr11:71796908-71796932	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF2	chr11:71796917-71797182	Hela-S3	cervix:	n/a	chr11:71797068-71797079
10	POLR2A	chr11:71796777-71796953	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:71796837-71799431	K562	blood:	n/a	n/a
12	POLR2A	chr11:71796736-71797273	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:71796766-71797475	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr11:71796907-71797262	MCF-7	breast:	n/a	n/a
15	USF1	chr11:71796924-71797184	A549	lung:	n/a	chr11:71797068-71797079
16	USF1	chr11:71796862-71797299	ECC-1	luminal epithelium:	n/a	chr11:71797068-71797079
17	USF1	chr11:71796867-71797286	K562	blood:	n/a	chr11:71797068-71797079
18	POLR2A	chr11:71796842-71796979	GM12878	blood:	n/a	n/a
19	USF1	chr11:71796730-71797291	HCT-116	colon:	n/a	chr11:71797068-71797079
20	USF1	chr11:71796776-71797288	H1-hESC	embryonic stem cell:	n/a	chr11:71797068-71797079
21	POLR2A	chr11:71796770-71796978	K562	blood:	n/a	n/a
22	USF1	chr11:71796881-71797192	A549	lung:	n/a	chr11:71797068-71797079
23	USF2	chr11:71796916-71797216	H1-hESC	embryonic stem cell:	n/a	chr11:71797068-71797079
24	POLR2A	chr11:71796598-71797349	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
2	chr11:71748762..71757629-chr11:71789138..71799261,28	MCF-7	breast:
3	chr11:71789323..71798359-chr11:71810049..71815293,14	MCF-7	breast:
4	chr11:71795514..71800060-chr11:71810684..71814982,4	MCF-7	breast:

Variant related genes	Relation type
LRTOMT	TF binding region
ENSG00000149357	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000238768	Chromatin interaction

Extended variants
information (count: 187 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:185)

rs_ID	r²[population]
rs10128658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10501408	0.87[CEU][hapmap]
rs1055452	0.87[CEU][hapmap];0.87[JPT][hapmap]
rs1057992	0.87[CEU][hapmap]
rs10736781	0.88[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap]
rs10736783	0.82[CEU][hapmap]
rs10736786	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10751189	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10751190	0.85[EUR][1000 genomes]
rs10751191	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs10751193	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10793011	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs10793016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10898814	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235440	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235441	0.87[CEU][hapmap]
rs12272213	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12283462	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12293195	0.87[CEU][hapmap]
rs12293885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1541304	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs1541306	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1548348	0.87[CEU][hapmap]
rs1573500	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1573501	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs1573502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17161966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17161980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17161991	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1791544	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1806778	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1892919	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1892920	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs1892921	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes]
rs1894003	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1894004	0.87[CEU][hapmap]
rs1939242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1939243	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1939245	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1939247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2155142	0.87[CEU][hapmap]
rs2155145	0.81[JPT][hapmap]
rs2187496	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs2250866	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]
rs2276384	0.87[CEU][hapmap]
rs2298456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2298457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs2503	0.87[CEU][hapmap]
rs2508856	0.87[CEU][hapmap]
rs2511074	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511075	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511076	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511078	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511116	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511121	0.83[ASN][1000 genomes]
rs2511122	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2845857	0.90[EUR][1000 genomes]
rs28504107	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2885880	0.81[JPT][hapmap]
rs3018301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3018304	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3018308	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3018310	0.82[CEU][hapmap]
rs3133230	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133233	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3750908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3793938	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3814721	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs3886589	0.81[EUR][1000 genomes]
rs4121395	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs4338555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4387373	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs4477459	0.81[JPT][hapmap]
rs4479013	0.81[EUR][1000 genomes]
rs482013	0.99[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];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944232	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs4944242	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs4944243	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs4944258	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4944259	0.84[ASN][1000 genomes]
rs4945378	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs4945392	0.87[CEU][hapmap]
rs4945426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4945434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4945435	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs495567	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs510925	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs517837	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs542097	0.87[CEU][hapmap]
rs542752	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs547208	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs548961	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs552966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs560777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56097487	0.83[EUR][1000 genomes]
rs567026	0.87[CEU][hapmap]
rs57025151	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs575831	0.87[CEU][hapmap]
rs575871	0.87[CEU][hapmap]
rs577435	0.87[CEU][hapmap]
rs579320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs585228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58991229	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs595062	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs597513	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610004	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];1.00[ASN][1000 genomes]
rs610041	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];1.00[ASN][1000 genomes]
rs612255	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs615000	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs627329	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs642573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs642618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs656640	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592447	0.87[CEU][hapmap]
rs6592448	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs6592449	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs6592450	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6592451	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs6592453	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[EUR][1000 genomes]
rs6592455	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[EUR][1000 genomes]
rs6592456	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs6592457	0.87[CEU][hapmap]
rs6592458	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6592459	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs659513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs661290	0.87[CEU][hapmap];0.81[JPT][hapmap];0.80[YRI][hapmap]
rs670802	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs673478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675185	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676721	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs677279	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs678193	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs679926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs686340	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs7101701	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7102192	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap]
rs7103210	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7106730	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs7111379	0.87[CEU][hapmap]
rs7113436	0.87[CEU][hapmap]
rs7113549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7115513	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs7116188	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7116495	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7121080	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs7121260	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7123102	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7123992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7124000	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7126394	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs7126838	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7127865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128317	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[EUR][1000 genomes]
rs7128974	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[EUR][1000 genomes]
rs73531952	0.85[EUR][1000 genomes]
rs73539529	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73539532	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73543609	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73543633	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7480015	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7924516	0.81[EUR][1000 genomes]
rs7924834	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs7925604	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs7930142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7930544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7930721	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7930722	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7931941	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7937515	0.81[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs7937582	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7948821	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs7949480	0.85[EUR][1000 genomes]
rs947932	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs949323	0.87[CEU][hapmap];0.83[YRI][hapmap]
rs949325	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs949326	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers 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 miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs493065	NUMA1	cis	uninvolved skin	skin_eQTL
rs493065	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71792400-71797000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:71792400-71798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:71792400-71799000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:71792400-71799000	Weak transcription	Left Ventricle	heart
5	chr11:71792400-71799200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:71792400-71799400	Weak transcription	Ovary	ovary
7	chr11:71792400-71802600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:71792400-71805200	Weak transcription	HSMMtube	muscle
9	chr11:71792400-71805800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:71792600-71797200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:71792600-71797200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:71792600-71799000	Weak transcription	Liver	Liver
13	chr11:71792600-71799200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:71792600-71799200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:71792600-71799200	Weak transcription	Osteobl	bone
16	chr11:71792600-71799400	Weak transcription	HSMM	muscle
17	chr11:71792600-71800800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:71792600-71802000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:71792600-71802400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:71792600-71804200	Weak transcription	Aorta	Aorta
21	chr11:71792600-71804800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:71792600-71805400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:71792600-71805400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:71792600-71805400	Weak transcription	Colonic Mucosa	Colon
25	chr11:71792600-71805600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:71792600-71805600	Weak transcription	Esophagus	oesophagus
27	chr11:71792600-71805600	Weak transcription	Pancreas	Pancrea
28	chr11:71792600-71808800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:71792600-71809000	Weak transcription	Psoas Muscle	Psoas
30	chr11:71792600-71812800	Weak transcription	Fetal Heart	heart
31	chr11:71792600-71813200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:71792800-71797200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:71792800-71798600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:71792800-71798600	Weak transcription	Fetal Intestine Large	intestine
35	chr11:71792800-71798600	Weak transcription	NH-A	brain
36	chr11:71792800-71798600	Weak transcription	NHDF-Ad	bronchial
37	chr11:71792800-71799000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:71792800-71799000	Weak transcription	Fetal Stomach	stomach
39	chr11:71792800-71799000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:71792800-71799000	Weak transcription	Thymus	Thymus
41	chr11:71792800-71799400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:71792800-71801000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:71792800-71801000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:71792800-71801400	Weak transcription	HepG2	liver
45	chr11:71792800-71801800	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:71792800-71801800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:71792800-71802000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:71792800-71802000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:71792800-71802200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:71792800-71804600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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