Variant report

Variant	rs4943821
Chromosome Location	chr11:71813747-71813748
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	ZNF384	chr11:71813640-71814015	K562	blood:	n/a	n/a
2	TBP	chr11:71813578-71814983	K562	blood:	n/a	n/a
3	CHD1	chr11:71813593-71814827	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr11:71813495-71814779	Hela-S3	cervix:	n/a	n/a
5	IRF1	chr11:71813453-71814995	K562	blood:	n/a	chr11:71813605-71813615 chr11:71814517-71814531
6	POLR2A	chr11:71813691-71814798	HCT-116	colon:	n/a	n/a
7	GABPA	chr11:71813704-71814876	Hela-S3	cervix:	n/a	chr11:71814208-71814217
8	HEY1	chr11:71813278-71814867	K562	blood:	n/a	chr11:71814537-71814546
9	POLR2A	chr11:71813687-71814757	GM12891	blood:	n/a	n/a
10	SMC3	chr11:71813400-71815014	Hela-S3	cervix:	n/a	n/a
11	TBL1XR1	chr11:71813093-71815310	K562	blood:	n/a	n/a
12	GTF2F1	chr11:71813680-71814748	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:71811770-71815195	HepG2	liver:	n/a	n/a
14	GABPA	chr11:71813699-71814880	A549	lung:	n/a	chr11:71814208-71814217
15	SMARCB1	chr11:71813650-71814946	Hela-S3	cervix:	n/a	n/a
16	MYC	chr11:71813689-71814893	K562	blood:	n/a	chr11:71814531-71814540 chr11:71814337-71814346 chr11:71814499-71814514 chr11:71814373-71814383
17	YY1	chr11:71813715-71814787	GM12892	blood:	n/a	chr11:71814212-71814226 chr11:71814209-71814220
18	RUNX3	chr11:71813643-71814845	GM12878	blood:	n/a	n/a
19	ZC3H11A	chr11:71813585-71813903	K562	blood:	n/a	n/a
20	NFATC1	chr11:71813597-71814871	GM12878	blood:	n/a	n/a
21	MAZ	chr11:71813623-71815133	K562	blood:	n/a	chr11:71814531-71814540 chr11:71814337-71814346 chr11:71814499-71814514 chr11:71814373-71814383
22	GABPA	chr11:71813706-71814856	MCF-7	breast:	n/a	chr11:71814208-71814217
23	CHD1	chr11:71813544-71814934	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:71813610-71814853	H1-hESC	embryonic stem cell:	n/a	n/a
25	ELF1	chr11:71813637-71814727	K562	blood:	n/a	n/a
26	POLR2A	chr11:71813703-71814908	H1-neurons	neurons:	n/a	n/a
27	BCLAF1	chr11:71813584-71814775	GM12878	blood:	n/a	chr11:71814212-71814225 chr11:71813980-71813989 chr11:71814211-71814224
28	BCL3	chr11:71813614-71814870	A549	lung:	n/a	chr11:71814212-71814225 chr11:71813980-71813989 chr11:71814211-71814224
29	POLR2A	chr11:71813206-71814779	IMR90	lung:	n/a	n/a
30	HEY1	chr11:71813692-71814438	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:71813287-71814879	HUVEC	blood vessel:	n/a	n/a
32	RCOR1	chr11:71813722-71814952	HepG2	liver:	n/a	n/a
33	IRF1	chr11:71813485-71814803	K562	blood:	n/a	chr11:71813605-71813615 chr11:71814517-71814531
34	USF1	chr11:71813624-71814978	HCT-116	colon:	n/a	chr11:71814501-71814510 chr11:71814501-71814510
35	POLR2A	chr11:71813692-71814938	GM12892	blood:	n/a	n/a
36	POLR2A	chr11:71813658-71813874	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr11:71812848-71815469	GM12892	blood:	n/a	n/a
38	POLR2A	chr11:71813637-71815254	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr11:71813577-71815186	GM18951	blood:	n/a	n/a
40	ELK4	chr11:71813682-71814835	Hela-S3	cervix:	n/a	chr11:71814435-71814443 chr11:71814434-71814443
41	KAT2A	chr11:71813679-71814862	Hela-S3	cervix:	n/a	n/a
42	UBTF	chr11:71813686-71814990	K562	blood:	n/a	n/a
43	ZNF263	chr11:71813644-71814798	HEK293-T-REx	kidney:	n/a	n/a
44	POLR2A	chr11:71813732-71814902	GM12878	blood:	n/a	n/a
45	BHLHE40	chr11:71813589-71815266	K562	blood:	n/a	chr11:71814501-71814510 chr11:71814501-71814510
46	TCF12	chr11:71813601-71815001	A549	lung:	n/a	n/a
47	MAZ	chr11:71813113-71815078	IMR90	lung:	n/a	chr11:71814531-71814540 chr11:71814337-71814346 chr11:71814499-71814514 chr11:71814373-71814383
48	POLR2A	chr11:71813726-71815127	HCT-116	colon:	n/a	n/a
49	EP300	chr11:71813674-71814832	GM12878	blood:	n/a	chr11:71813912-71813925
50	HCFC1	chr11:71813664-71815162	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71749829..71754834-chr11:71810770..71817366,12	MCF-7	breast:
2	chr11:71751619..71754177-chr11:71813642..71816501,2	K562	blood:
3	chr11:71747688..71754289-chr11:71810930..71816696,13	MCF-7	breast:
4	chr11:71774601..71777364-chr11:71811846..71813993,2	K562	blood:
5	chr11:71812576..71816251-chr11:71934138..71937267,4	MCF-7	breast:
6	chr11:71722616..71724579-chr11:71811976..71814319,2	K562	blood:
7	chr11:71779055..71780591-chr11:71811927..71814080,2	K562	blood:
8	chr11:71747646..71754177-chr11:71811554..71816654,6	K562	blood:
9	chr11:71812980..71815340-chr11:72143854..72146897,3	MCF-7	breast:
10	chr11:71813081..71815809-chr11:72144185..72147079,2	K562	blood:
11	chr11:71795514..71800060-chr11:71810684..71814982,4	MCF-7	breast:
12	chr11:71813597..71814444-chr11:71822928..71824140,3	Hela-S3	cervix:
13	chr11:71812032..71815862-chr11:71933743..71937376,6	MCF-7	breast:
14	chr11:71789323..71798359-chr11:71810049..71815293,14	MCF-7	breast:
15	chr11:71813512..71815032-chr11:72144713..72146215,2	MCF-7	breast:
16	chr11:71733604..71737833-chr11:71811997..71815389,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238768	TF binding region
LAMTOR1	TF binding region
LRTOMT	TF binding region
ENSG00000212089	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000137497	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:186)

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];0.81[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10450664	0.91[GIH][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]
rs10736781	0.88[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.81[YRI][hapmap]
rs10736783	0.82[CEU][hapmap]
rs10736786	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10751189	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];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs10751190	0.83[EUR][1000 genomes]
rs10751191	0.86[CEU][hapmap]
rs10751193	0.98[EUR][1000 genomes];0.95[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];0.81[MEX][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10898814	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10898817	0.82[ASN][1000 genomes]
rs11235440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235441	0.87[CEU][hapmap]
rs12272213	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283462	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12293195	0.87[CEU][hapmap]
rs12293885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541304	0.87[CEU][hapmap]
rs1541306	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[EUR][1000 genomes]
rs1548348	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs1573500	0.81[EUR][1000 genomes];0.86[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];0.81[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17161966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17161980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161991	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1791544	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1806778	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1892919	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1892920	0.87[CEU][hapmap]
rs1892921	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1894003	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1894004	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs1939242	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]
rs1939243	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1939245	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1939247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2155142	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2187496	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap]
rs2250866	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]
rs2276384	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2298456	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];0.86[ASN][1000 genomes]
rs2298457	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]
rs2363736	0.81[EUR][1000 genomes]
rs2503	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2508856	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2511074	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2511075	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511076	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511078	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2511079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2511114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2511116	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2511121	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2511122	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2845857	0.88[EUR][1000 genomes]
rs28504107	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2885880	0.81[EUR][1000 genomes]
rs3018301	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3018302	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap]
rs3018304	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3018308	0.94[ASN][1000 genomes]
rs3018310	0.82[CEU][hapmap]
rs3133230	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133233	0.98[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];0.88[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3793938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3814721	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs3829215	0.87[GIH][hapmap]
rs4121395	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap]
rs4338555	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]
rs4387373	0.87[CEU][hapmap]
rs482013	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs493065	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[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap]
rs4944242	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]
rs4944243	0.87[CEU][hapmap]
rs4944258	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4944259	0.87[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];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4945434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945435	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs495567	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs510925	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs517837	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs541022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs542752	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs547208	0.88[ASN][1000 genomes]
rs548961	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs552966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs560777	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];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56097487	0.86[EUR][1000 genomes]
rs567026	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs57025151	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58991229	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs595062	0.87[CEU][hapmap]
rs597513	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs598835	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs607446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs610004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs610041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs612255	0.86[CEU][hapmap]
rs615000	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs627329	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs636946	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs642573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs642618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs656640	0.98[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];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap]
rs6592449	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6592450	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs6592451	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]
rs6592453	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];0.83[EUR][1000 genomes]
rs6592455	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];0.83[EUR][1000 genomes]
rs6592456	0.87[CEU][hapmap]
rs6592457	0.87[CEU][hapmap]
rs6592458	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6592459	0.94[ASN][1000 genomes]
rs659513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661290	0.87[CEU][hapmap]
rs670802	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs671681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[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];0.88[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs675185	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs676721	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs677279	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs678193	0.98[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];0.81[MEX][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs686340	0.87[CEU][hapmap]
rs7101701	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7102192	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap]
rs7103210	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7106730	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs7111379	0.87[CEU][hapmap]
rs7113436	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs7113549	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];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7115513	0.87[CEU][hapmap]
rs7116188	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7116495	0.93[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];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs7123102	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7123992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs7124000	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7126394	0.87[CEU][hapmap]
rs7126838	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7127865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7128317	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs7128346	0.82[EUR][1000 genomes]
rs7128974	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];0.83[EUR][1000 genomes]
rs73531952	0.83[EUR][1000 genomes]
rs73539529	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73539532	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543609	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543633	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7480015	0.85[ASN][1000 genomes]
rs7924834	0.87[CEU][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap]
rs7925411	0.91[GIH][hapmap]
rs7925604	0.87[CEU][hapmap]
rs7930142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7930544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7930721	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7930722	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7931941	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.82[YRI][hapmap]
rs7937515	0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7937582	0.87[ASN][1000 genomes]
rs7943227	0.81[EUR][1000 genomes]
rs7948821	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]
rs7949480	0.83[EUR][1000 genomes]
rs947932	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs949323	0.87[CEU][hapmap];0.96[GIH][hapmap]
rs949325	0.83[EUR][1000 genomes];0.86[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4943821	NUMA1	cis	uninvolved skin	skin_eQTL
rs4943821	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71810400-71814000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:71810800-71813800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:71810800-71814000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:71811800-71814400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr11:71812400-71814000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:71812600-71814000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:71812600-71814000	Flanking Active TSS	Hela-S3	cervix
8	chr11:71812800-71813800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:71812800-71813800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr11:71812800-71813800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:71812800-71813800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:71812800-71813800	Flanking Active TSS	Liver	Liver
13	chr11:71812800-71813800	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr11:71812800-71813800	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr11:71812800-71813800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:71812800-71813800	Flanking Active TSS	Fetal Lung	lung
17	chr11:71812800-71813800	Flanking Active TSS	Rectal Smooth Muscle	rectum
18	chr11:71812800-71813800	Flanking Active TSS	HUVEC	blood vessel
19	chr11:71812800-71813800	Flanking Active TSS	NH-A	brain
20	chr11:71812800-71814000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr11:71812800-71814000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr11:71812800-71814800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr11:71813000-71813800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr11:71813000-71813800	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr11:71813000-71813800	Flanking Active TSS	Fetal Brain Male	brain
26	chr11:71813000-71813800	Flanking Active TSS	Fetal Kidney	kidney
27	chr11:71813000-71814000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr11:71813000-71814000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr11:71813000-71814000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:71813000-71814000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr11:71813000-71814000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr11:71813000-71814000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr11:71813000-71814000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr11:71813000-71814200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr11:71813000-71814600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:71813000-71814800	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:71813000-71814800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:71813200-71813800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr11:71813200-71813800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr11:71813200-71813800	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr11:71813200-71813800	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr11:71813200-71813800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr11:71813200-71813800	Flanking Active TSS	Placenta	Placenta
44	chr11:71813200-71813800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr11:71813200-71813800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr11:71813200-71813800	Flanking Active TSS	Thymus	Thymus
47	chr11:71813200-71814000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:71813200-71814000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr11:71813200-71814000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:71813200-71814000	Flanking Active TSS	Brain Germinal Matrix	brain

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Variant report

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