Variant report

Variant	rs4944232
Chromosome Location	chr11:71642258-71642259
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	RUNX3	chr11:71641411-71642889	GM12878	blood:	n/a	n/a
2	ATF2	chr11:71642138-71642547	GM12878	blood:	n/a	n/a
3	NFATC1	chr11:71642146-71642779	GM12878	blood:	n/a	n/a
4	NFIC	chr11:71641936-71642686	GM12878	blood:	n/a	n/a
5	SMC3	chr11:71642212-71642820	GM12878	blood:	n/a	n/a
6	NFATC1	chr11:71642247-71642858	GM12878	blood:	n/a	n/a
7	BCL3	chr11:71642165-71642702	GM12878	blood:	n/a	chr11:71642352-71642361
8	RELA	chr11:71642077-71642860	GM19193	blood:	n/a	chr11:71642387-71642396 chr11:71642387-71642396
9	CEBPB	chr11:71642031-71642711	GM12878	blood:	n/a	n/a
10	MEF2A	chr11:71642178-71642728	GM12878	blood:	n/a	chr11:71642476-71642490 chr11:71642354-71642362 chr11:71642478-71642489
11	RELA	chr11:71641250-71642946	GM12891	blood:	n/a	chr11:71642387-71642396 chr11:71642387-71642396
12	EP300	chr11:71642240-71642926	GM12878	blood:	n/a	n/a
13	TBL1XR1	chr11:71642133-71642664	GM12878	blood:	n/a	n/a
14	RELA	chr11:71642057-71642857	GM18951	blood:	n/a	chr11:71642387-71642396 chr11:71642387-71642396
15	RUNX3	chr11:71642029-71642672	GM12878	blood:	n/a	n/a
16	FOXM1	chr11:71641508-71642812	GM12878	blood:	n/a	n/a
17	MEF2A	chr11:71642166-71642911	GM12878	blood:	n/a	chr11:71642476-71642490 chr11:71642354-71642362 chr11:71642478-71642489
18	ATF2	chr11:71642069-71642876	GM12878	blood:	n/a	n/a
19	MTA3	chr11:71642080-71642994	GM12878	blood:	n/a	n/a
20	RELA	chr11:71641575-71643017	GM12878	blood:	n/a	chr11:71642387-71642396 chr11:71642387-71642396
21	RELA	chr11:71641994-71642836	GM19099	blood:	n/a	chr11:71642387-71642396 chr11:71642387-71642396
22	RELA	chr11:71642070-71642973	GM10847	blood:	n/a	chr11:71642387-71642396 chr11:71642387-71642396
23	RELA	chr11:71642216-71642939	GM18505	blood:	n/a	chr11:71642387-71642396 chr11:71642387-71642396
24	BATF	chr11:71642226-71642573	GM12878	blood:	n/a	n/a
25	NFIC	chr11:71640963-71642934	GM12878	blood:	n/a	n/a
26	BHLHE40	chr11:71642244-71642709	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71641708..71644005-chr11:71683990..71686747,2	MCF-7	breast:
2	chr11:71641143..71643109-chr11:71654078..71656466,2	MCF-7	breast:
3	chr11:71641032..71643202-chr11:71658397..71660024,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254469	TF binding region

Extended variants
information (count: 262 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:258)

rs_ID	r²[population]
rs10128658	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10450664	0.91[GIH][hapmap];0.87[MEX][hapmap]
rs10501408	0.87[CEU][hapmap];0.85[GIH][hapmap];0.88[YRI][hapmap]
rs1055452	0.87[CEU][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap]
rs1057992	0.87[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap]
rs10736781	0.88[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736782	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736783	0.82[CEU][hapmap];0.85[YRI][hapmap]
rs10736786	0.81[EUR][1000 genomes]
rs10751189	1.00[CEU][hapmap];1.00[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];1.00[ASN][1000 genomes]
rs10751190	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751191	0.86[CEU][hapmap];0.88[YRI][hapmap]
rs10793011	0.87[CEU][hapmap]
rs10793016	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10898814	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10898817	0.83[ASN][1000 genomes]
rs11235440	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs11235441	0.87[CEU][hapmap];0.81[YRI][hapmap]
rs12272213	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs12291678	0.83[EUR][1000 genomes]
rs12293885	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs1541304	0.87[CEU][hapmap]
rs1541306	1.00[CEU][hapmap];1.00[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];0.96[ASN][1000 genomes]
rs1548348	0.87[CEU][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];0.81[YRI][hapmap]
rs1573500	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1573501	0.87[CEU][hapmap]
rs1573502	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1612492	0.88[EUR][1000 genomes]
rs1629046	0.90[EUR][1000 genomes]
rs1629722	0.88[EUR][1000 genomes]
rs17161966	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs17161980	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs1783959	0.90[EUR][1000 genomes]
rs1783960	0.88[EUR][1000 genomes]
rs1783961	0.88[EUR][1000 genomes]
rs1783962	0.88[EUR][1000 genomes]
rs1791449	0.88[EUR][1000 genomes]
rs1791450	0.88[EUR][1000 genomes]
rs1791451	0.83[EUR][1000 genomes]
rs1791452	0.88[EUR][1000 genomes]
rs1892919	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1892920	0.87[CEU][hapmap];0.87[YRI][hapmap]
rs1892921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1894003	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1894004	0.87[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap];0.81[YRI][hapmap]
rs1939242	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]
rs1939243	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939245	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939247	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939248	0.85[EUR][1000 genomes]
rs2155142	0.87[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs2187496	1.00[CEU][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2250866	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]
rs2276384	0.87[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.88[YRI][hapmap]
rs2298456	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2298457	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs2363736	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460252	0.85[EUR][1000 genomes]
rs2460253	0.85[EUR][1000 genomes]
rs2460254	0.88[EUR][1000 genomes]
rs2503	0.87[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap]
rs2508578	0.85[EUR][1000 genomes]
rs2508856	0.87[CEU][hapmap];0.91[GIH][hapmap];0.81[YRI][hapmap]
rs2511079	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs2511097	0.85[EUR][1000 genomes]
rs2511098	0.85[EUR][1000 genomes]
rs2511099	0.88[EUR][1000 genomes]
rs2511114	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs2845856	0.88[EUR][1000 genomes]
rs2845857	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2885880	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2945921	0.85[EUR][1000 genomes]
rs3016288	0.83[EUR][1000 genomes]
rs3016289	0.85[EUR][1000 genomes]
rs3016291	0.88[EUR][1000 genomes]
rs3018301	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap]
rs3018302	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs3018310	0.82[CEU][hapmap]
rs34390540	0.83[EUR][1000 genomes]
rs3750908	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs3793938	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs3814721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3829215	0.87[GIH][hapmap]
rs3886589	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4121395	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4338555	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4387373	0.87[CEU][hapmap];0.81[YRI][hapmap]
rs4479013	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4491255	0.94[ASN][1000 genomes]
rs474231	0.93[EUR][1000 genomes]
rs475759	0.82[EUR][1000 genomes]
rs475959	0.90[EUR][1000 genomes]
rs479487	0.88[EUR][1000 genomes]
rs481300	0.88[EUR][1000 genomes]
rs481355	0.88[EUR][1000 genomes]
rs482413	0.85[EUR][1000 genomes]
rs493065	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs4943821	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap]
rs4944242	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944243	0.87[CEU][hapmap];0.88[YRI][hapmap]
rs4944258	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944259	0.84[ASN][1000 genomes]
rs4945340	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4945353	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945378	0.87[CEU][hapmap];0.88[YRI][hapmap]
rs4945392	0.87[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.88[YRI][hapmap]
rs4945426	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4945434	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945435	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs497761	0.87[CEU][hapmap]
rs497867	0.83[EUR][1000 genomes]
rs499386	0.90[EUR][1000 genomes]
rs506395	0.88[EUR][1000 genomes]
rs510925	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap]
rs513292	0.87[EUR][1000 genomes]
rs514431	0.93[EUR][1000 genomes]
rs515358	0.85[EUR][1000 genomes]
rs518830	0.85[EUR][1000 genomes]
rs519098	0.93[EUR][1000 genomes]
rs520025	0.85[EUR][1000 genomes]
rs528942	0.85[EUR][1000 genomes]
rs529522	0.90[EUR][1000 genomes]
rs529567	0.88[EUR][1000 genomes]
rs531326	0.88[EUR][1000 genomes]
rs532433	0.88[EUR][1000 genomes]
rs541022	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap]
rs542097	0.87[CEU][hapmap]
rs548127	0.88[EUR][1000 genomes]
rs550230	0.93[EUR][1000 genomes]
rs552966	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs556089	0.88[EUR][1000 genomes]
rs558859	0.93[EUR][1000 genomes]
rs55972015	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560626	0.83[EUR][1000 genomes]
rs560777	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs56097487	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs562414	0.88[EUR][1000 genomes]
rs562469	0.88[EUR][1000 genomes]
rs562621	0.88[EUR][1000 genomes]
rs564170	0.85[EUR][1000 genomes]
rs566965	0.88[EUR][1000 genomes]
rs567026	0.87[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap];0.81[YRI][hapmap]
rs573137	0.86[EUR][1000 genomes]
rs573227	0.88[EUR][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];0.81[YRI][hapmap]
rs579254	0.83[EUR][1000 genomes]
rs579320	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs585228	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs59339387	0.83[EUR][1000 genomes]
rs595062	0.87[CEU][hapmap];0.81[YRI][hapmap]
rs596130	0.90[EUR][1000 genomes]
rs596629	0.85[EUR][1000 genomes]
rs599611	0.88[EUR][1000 genomes]
rs601865	0.85[EUR][1000 genomes]
rs603680	0.85[EUR][1000 genomes]
rs604671	0.85[EUR][1000 genomes]
rs607319	0.88[EUR][1000 genomes]
rs607446	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs609181	0.85[EUR][1000 genomes]
rs609492	0.83[EUR][1000 genomes]
rs610004	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs610041	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs612255	0.86[CEU][hapmap];0.81[YRI][hapmap]
rs613140	0.88[EUR][1000 genomes]
rs613535	0.88[EUR][1000 genomes]
rs613971	0.88[EUR][1000 genomes]
rs615000	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs618186	0.90[EUR][1000 genomes]
rs629714	0.88[EUR][1000 genomes]
rs633448	0.83[EUR][1000 genomes]
rs634829	0.83[EUR][1000 genomes]
rs635442	0.83[EUR][1000 genomes]
rs635701	0.83[EUR][1000 genomes]
rs636184	0.83[EUR][1000 genomes]
rs642573	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs642618	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs650542	0.85[EUR][1000 genomes]
rs654780	0.88[EUR][1000 genomes]
rs656990	0.88[EUR][1000 genomes]
rs657819	0.87[EUR][1000 genomes]
rs658661	0.85[EUR][1000 genomes]
rs658699	0.88[EUR][1000 genomes]
rs6592447	0.87[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.88[YRI][hapmap]
rs6592448	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592451	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592452	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6592453	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592455	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592456	0.87[CEU][hapmap];0.81[YRI][hapmap]
rs6592457	0.87[CEU][hapmap]
rs6592458	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs659513	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs661242	0.90[EUR][1000 genomes]
rs661290	0.87[CEU][hapmap];0.94[YRI][hapmap]
rs662649	0.88[EUR][1000 genomes]
rs669835	0.81[EUR][1000 genomes]
rs671072	0.85[EUR][1000 genomes]
rs671394	0.85[EUR][1000 genomes]
rs671681	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs672424	0.85[EUR][1000 genomes]
rs672533	0.85[EUR][1000 genomes]
rs673478	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs674688	0.88[EUR][1000 genomes]
rs674735	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs675156	0.85[EUR][1000 genomes]
rs679926	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs680150	0.90[EUR][1000 genomes]
rs686205	0.88[EUR][1000 genomes]
rs686340	0.87[CEU][hapmap]
rs692940	0.85[EUR][1000 genomes]
rs693648	0.88[EUR][1000 genomes]
rs7101701	0.81[EUR][1000 genomes]
rs7102192	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106730	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs7106748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111379	0.87[CEU][hapmap];0.81[YRI][hapmap]
rs7113436	0.87[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.86[YRI][hapmap]
rs7113549	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap]
rs7115513	0.87[CEU][hapmap];0.88[YRI][hapmap]
rs7116495	0.81[EUR][1000 genomes]
rs7121080	0.87[CEU][hapmap];0.88[YRI][hapmap]
rs7121260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7123992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7124000	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7126394	0.87[CEU][hapmap];0.88[YRI][hapmap]
rs7127865	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128317	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7128346	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128974	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73531952	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7480015	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7924516	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924834	0.87[CEU][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.88[YRI][hapmap]
rs7925411	0.91[GIH][hapmap];0.87[MEX][hapmap];0.88[YRI][hapmap]
rs7925604	0.87[CEU][hapmap];0.88[YRI][hapmap]
rs7925901	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7926533	0.88[EUR][1000 genomes]
rs7930142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930721	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930722	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7931941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937515	0.93[JPT][hapmap]
rs7937582	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7943227	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944073	0.88[EUR][1000 genomes]
rs7948821	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949480	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7951194	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs947932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949323	0.84[ASW][hapmap];0.87[CEU][hapmap];0.96[GIH][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.94[YRI][hapmap]
rs949325	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs949326	0.84[ASW][hapmap];0.87[CEU][hapmap];0.91[GIH][hapmap];0.84[LWK][hapmap];0.81[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	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
rs4944232	NUMA1	cis	uninvolved skin	skin_eQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71640600-71642400	Flanking Active TSS	Osteobl	bone
2	chr11:71640600-71643600	Flanking Active TSS	HUVEC	blood vessel
3	chr11:71640800-71643200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:71641000-71642800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:71641000-71643000	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:71641000-71644000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:71641000-71671000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:71641200-71642400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:71641200-71642800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:71641200-71643000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr11:71641200-71643600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr11:71641200-71643600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr11:71641200-71645400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:71641200-71648600	Weak transcription	Placenta	Placenta
15	chr11:71641200-71650000	Weak transcription	Colonic Mucosa	Colon
16	chr11:71641200-71670800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:71641200-71671400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:71641400-71642400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:71641400-71642600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:71641400-71642600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:71641400-71642600	Enhancers	Fetal Brain Male	brain
22	chr11:71641400-71642800	Weak transcription	Aorta	Aorta
23	chr11:71641400-71642800	Enhancers	Brain Angular Gyrus	brain
24	chr11:71641400-71642800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr11:71641400-71642800	Enhancers	Fetal Heart	heart
26	chr11:71641400-71642800	Enhancers	Fetal Lung	lung
27	chr11:71641400-71644000	Weak transcription	Left Ventricle	heart
28	chr11:71641400-71644200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:71641400-71644800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:71641400-71644800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:71641400-71645000	Weak transcription	Thymus	Thymus
32	chr11:71641400-71645600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr11:71641400-71648600	Weak transcription	Primary T cells from cord blood	blood
34	chr11:71641400-71651600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:71641400-71652000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:71641400-71658000	Weak transcription	Lung	lung
37	chr11:71641400-71661600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:71641400-71670800	Weak transcription	Esophagus	oesophagus
39	chr11:71641400-71671000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:71641400-71671000	Weak transcription	Fetal Thymus	thymus
41	chr11:71641400-71671400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:71641600-71642600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:71641600-71642600	Enhancers	HSMM	muscle
44	chr11:71641600-71642800	Enhancers	Fetal Brain Female	brain
45	chr11:71641600-71642800	Enhancers	Fetal Muscle Leg	muscle
46	chr11:71641600-71643000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr11:71641600-71643400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:71641600-71644000	Weak transcription	Fetal Intestine Large	intestine
49	chr11:71641600-71644000	Weak transcription	Gastric	stomach
50	chr11:71641600-71644000	Weak transcription	Pancreas	Pancrea

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