Variant report

Variant	rs1939242
Chromosome Location	chr11:71753582-71753583
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	MXI1	chr11:71748458-71753885	SK-N-SH	brain:	n/a	n/a
2	REST	chr11:71750289-71753776	H1-neurons	neurons:	n/a	chr11:71752906-71752919 chr11:71750381-71750399 chr11:71752969-71752978 chr11:71750429-71750437 chr11:71752897-71752910
3	WRNIP1	chr11:71750327-71753715	GM12878	blood:	n/a	n/a
4	MAZ	chr11:71751238-71753623	IMR90	lung:	n/a	chr11:71752280-71752290 chr11:71752074-71752084
5	POLR2A	chr11:71751576-71753664	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71747688..71754289-chr11:71810930..71816696,13	MCF-7	breast:
2	chr11:71749172..71754555-chr11:71820034..71825981,11	MCF-7	breast:
3	chr11:71749103..71754368-chr11:71778297..71785639,14	MCF-7	breast:
4	chr11:71748762..71757629-chr11:71789138..71799261,28	MCF-7	breast:
5	chr11:71751619..71754177-chr11:71813642..71816501,2	K562	blood:
6	chr11:71747646..71754177-chr11:71811554..71816654,6	K562	blood:
7	chr11:71748940..71751446-chr11:71753582..71757181,3	K562	blood:
8	chr11:71749038..71754852-chr11:71933473..71937860,9	MCF-7	breast:
9	chr11:71749829..71754834-chr11:71810770..71817366,12	MCF-7	breast:
10	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:

Variant related genes	Relation type
NUMA1	TF binding region
ENSG00000110203	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000238768	Chromatin interaction
ENSG00000263742	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000212089	Chromatin interaction
ENSG00000110200	Chromatin interaction

Extended variants
information (count: 200 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:198)

rs_ID	r²[population]
rs10128658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10450664	0.91[GIH][hapmap];0.87[MEX][hapmap]
rs10501408	0.87[CEU][hapmap];0.85[GIH][hapmap]
rs1055452	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs1057992	0.87[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap]
rs10736781	0.88[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10736782	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10736783	0.82[CEU][hapmap]
rs10736786	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10751189	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10751190	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10751191	0.86[CEU][hapmap]
rs10751193	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793011	0.87[CEU][hapmap]
rs10793016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898814	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898817	0.89[ASN][1000 genomes]
rs11235440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11235441	0.87[CEU][hapmap]
rs12272213	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12283462	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12293195	0.87[CEU][hapmap]
rs12293885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1541304	0.87[CEU][hapmap]
rs1541306	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1548348	0.87[CEU][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap]
rs1573500	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1573501	0.87[CEU][hapmap]
rs1573502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17161966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17161980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17161991	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1791544	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1806778	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1892919	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1892920	0.87[CEU][hapmap]
rs1892921	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1894003	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1894004	0.87[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap]
rs1939243	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1939245	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1939247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2155142	0.87[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs2187496	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2250866	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]
rs2276384	0.87[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs2298456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2298457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2363736	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2503	0.87[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap]
rs2508856	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2511074	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2511075	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511076	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511078	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511116	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511121	0.83[ASN][1000 genomes]
rs2511122	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2845857	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28504107	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2885880	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3018301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3018302	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs3018304	0.90[ASN][1000 genomes]
rs3018308	0.94[ASN][1000 genomes]
rs3018310	0.82[CEU][hapmap]
rs3133230	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133233	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3750908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3793938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3814721	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3829215	0.87[GIH][hapmap]
rs3886589	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4121395	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4338555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4387373	0.87[CEU][hapmap]
rs4479013	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4491255	0.80[ASN][1000 genomes]
rs482013	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs493065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4943821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944232	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4944242	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4944243	0.87[CEU][hapmap]
rs4944258	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944259	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4945353	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945378	0.87[CEU][hapmap]
rs4945392	0.87[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs4945426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4945434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945435	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495567	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs497761	0.87[CEU][hapmap]
rs510925	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs517837	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs541022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs542097	0.87[CEU][hapmap]
rs542752	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs547208	0.88[ASN][1000 genomes]
rs548961	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs552966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55972015	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs560777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56097487	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs567026	0.87[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap]
rs57025151	0.88[EUR][1000 genomes];0.89[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];1.00[JPT][hapmap]
rs585228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58991229	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs595062	0.87[CEU][hapmap]
rs597513	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs598835	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs607446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs610004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs610041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs612255	0.86[CEU][hapmap]
rs615000	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs627329	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs636946	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs642573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs642618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs656640	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592447	0.87[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs6592448	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592449	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs6592450	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592451	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592452	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6592453	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592455	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6592456	0.87[CEU][hapmap]
rs6592457	0.87[CEU][hapmap]
rs6592458	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592459	0.91[ASN][1000 genomes]
rs659513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs661290	0.87[CEU][hapmap]
rs670802	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs671681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs673478	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs674735	1.00[CEU][hapmap]
rs675185	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs676721	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs677279	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs678193	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs679926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs686340	0.87[CEU][hapmap]
rs7101701	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7102192	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7103210	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7106730	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs7106748	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7111379	0.87[CEU][hapmap]
rs7113436	0.87[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs7113549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7115513	0.87[CEU][hapmap]
rs7116188	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7116495	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7121080	0.87[CEU][hapmap]
rs7121260	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7123102	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7123992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7124000	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126394	0.87[CEU][hapmap]
rs7126838	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7127865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7128317	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128346	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7128974	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73531952	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73539529	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73539532	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73543609	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73543633	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7480015	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924516	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7924834	0.87[CEU][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap]
rs7925411	0.91[GIH][hapmap];0.87[MEX][hapmap]
rs7925604	0.87[CEU][hapmap]
rs7930142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7930544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7930721	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7930722	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7931941	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7937515	0.81[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs7937582	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7943227	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7948821	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7949480	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs947932	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs949323	0.87[CEU][hapmap];0.96[GIH][hapmap];0.87[MEX][hapmap]
rs949325	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs949326	0.87[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1939242	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71749800-71753600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:71750000-71754000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr11:71751800-71754000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:71752200-71753600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:71752200-71753600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:71752200-71753800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:71752200-71753800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:71752200-71753800	Flanking Active TSS	NHEK	skin
9	chr11:71752400-71753600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:71752400-71753600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:71752400-71753600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr11:71752400-71753600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr11:71752400-71753600	Flanking Active TSS	Fetal Brain Female	brain
14	chr11:71752400-71753600	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr11:71752400-71753600	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr11:71752400-71753600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr11:71752400-71753600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr11:71752400-71753600	Flanking Active TSS	NH-A	brain
19	chr11:71752400-71753600	Flanking Active TSS	Osteobl	bone
20	chr11:71752400-71753800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:71752400-71753800	Flanking Active TSS	GM12878-XiMat	blood
22	chr11:71752400-71753800	Flanking Active TSS	NHLF	lung
23	chr11:71752400-71754000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:71752400-71754000	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr11:71752400-71754200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr11:71752400-71754200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:71752600-71753600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:71752600-71753600	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr11:71752600-71753600	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr11:71752600-71753600	Flanking Active TSS	Fetal Lung	lung
31	chr11:71752600-71753600	Genic enhancers	Hela-S3	cervix
32	chr11:71752800-71753600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr11:71752800-71753600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr11:71752800-71753600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr11:71752800-71753800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr11:71752800-71753800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr11:71752800-71754000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:71752800-71754000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:71752800-71754400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr11:71753000-71753600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr11:71753000-71753600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr11:71753000-71753600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:71753000-71753600	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr11:71753000-71753600	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr11:71753000-71753600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr11:71753000-71753600	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr11:71753000-71753800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:71753000-71753800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:71753000-71753800	Flanking Active TSS	Fetal Heart	heart
50	chr11:71753000-71753800	Flanking Active TSS	Rectal Smooth Muscle	rectum

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Variant report

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