Variant report

Variant	rs3793938
Chromosome Location	chr11:71823133-71823134
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	POLR2A	chr11:71822603-71824498	HepG2	liver:	n/a	n/a
2	RCOR1	chr11:71823000-71824582	K562	blood:	n/a	n/a
3	FOXA1	chr11:71823032-71823632	T-47D	breast:	n/a	n/a
4	POLR2A	chr11:71822870-71824488	H1-hESC	embryonic stem cell:	n/a	n/a
5	EP300	chr11:71822480-71824020	K562	blood:	n/a	chr11:71823713-71823722 chr11:71823695-71823711
6	POLR2A	chr11:71822648-71824589	K562	blood:	n/a	n/a
7	POLR2A	chr11:71823001-71823401	SK-N-SH	brain:	n/a	n/a
8	SIN3AK20	chr11:71822956-71823707	H1-hESC	embryonic stem cell:	n/a	n/a
9	ARID3A	chr11:71823123-71823967	HepG2	liver:	n/a	chr11:71823688-71823703
10	TBP	chr11:71822687-71824390	Hela-S3	cervix:	n/a	n/a
11	HMGN3	chr11:71823039-71823959	K562	blood:	n/a	n/a
12	GABPA	chr11:71823092-71824167	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr11:71823094-71823399	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:71823089-71823444	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:71822638-71824547	ProgFib	skin:	n/a	n/a
16	POLR2A	chr11:71822918-71824379	GM15510	blood:	n/a	n/a
17	POLR2A	chr11:71822004-71824821	GM12892	blood:	n/a	n/a
18	E2F6	chr11:71822957-71824203	H1-hESC	embryonic stem cell:	n/a	chr11:71823815-71823826 chr11:71823783-71823792 chr11:71823688-71823703 chr11:71823816-71823828 chr11:71823445-71823455
19	MAFK	chr11:71822632-71824183	Hela-S3	cervix:	n/a	n/a
20	CREB1	chr11:71823003-71824178	K562	blood:	n/a	n/a
21	NFYA	chr11:71822757-71823922	K562	blood:	n/a	chr11:71823551-71823566 chr11:71823551-71823566 chr11:71823553-71823563 chr11:71823457-71823475 chr11:71823551-71823565
22	ZC3H11A	chr11:71822955-71823175	K562	blood:	n/a	n/a
23	TBL1XR1	chr11:71822867-71824412	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:71821894-71824788	GM12892	blood:	n/a	n/a
25	MYC	chr11:71822705-71824721	NB4	blood:	n/a	n/a
26	POLR2A	chr11:71822414-71824888	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr11:71822588-71824612	HUVEC	blood vessel:	n/a	n/a
28	MYC	chr11:71822898-71824231	Hela-S3	cervix:	n/a	n/a
29	USF2	chr11:71823045-71824365	Hela-S3	cervix:	n/a	chr11:71823708-71823724 chr11:71823190-71823206 chr11:71823700-71823716
30	BRCA1	chr11:71823066-71824476	Hela-S3	cervix:	n/a	chr11:71824425-71824432 chr11:71823376-71823383
31	TAF1	chr11:71822972-71824237	ECC-1	luminal epithelium:	n/a	n/a
32	FOXA1	chr11:71823046-71823658	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:71823005-71823405	A549	lung:	n/a	n/a
34	TAF1	chr11:71822754-71824175	H1-neurons	neurons:	n/a	n/a
35	MXI1	chr11:71822770-71824573	Hela-S3	cervix:	n/a	n/a
36	PBX3	chr11:71823106-71823702	A549	lung:	n/a	chr11:71823554-71823563
37	ETS1	chr11:71823051-71824256	A549	lung:	n/a	chr11:71823489-71823498 chr11:71823828-71823844 chr11:71823832-71823841 chr11:71823490-71823501 chr11:71823832-71823841 chr11:71823489-71823503 chr11:71823832-71823841 chr11:71823486-71823501 chr11:71823724-71823735 chr11:71823725-71823735 chr11:71823488-71823501 chr11:71823832-71823841
38	MAX	chr11:71822889-71824240	SK-N-SH	brain:	n/a	n/a
39	RCOR1	chr11:71823097-71823367	K562	blood:	n/a	n/a
40	POLR2A	chr11:71822928-71824513	GM18526	blood:	n/a	n/a
41	RCOR1	chr11:71822369-71824146	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:71822329-71824375	GM12878	blood:	n/a	n/a
43	TCF12	chr11:71823088-71823435	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:71822645-71824643	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr11:71823062-71824238	H1-hESC	embryonic stem cell:	n/a	n/a
46	YY1	chr11:71823110-71824129	GM12878	blood:	n/a	chr11:71823813-71823824 chr11:71823588-71823604
47	MTA3	chr11:71822660-71823347	GM12878	blood:	n/a	n/a
48	CHD2	chr11:71823085-71824434	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:71822850-71824182	GM10847	blood:	n/a	n/a
50	MTA3	chr11:71822263-71824835	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71638287..71640361-chr11:71821333..71824174,2	MCF-7	breast:
2	chr11:71822074..71824400-chr11:71947784..71949539,2	K562	blood:
3	chr11:71822793..71823782-chr3:73159959..73160606,2	Hela-S3	cervix:
4	chr11:71791731..71794694-chr11:71822498..71824725,2	MCF-7	breast:
5	chr11:71821841..71823408-chr11:72142963..72145568,2	K562	blood:
6	chr11:71780985..71784804-chr11:71822969..71825529,4	K562	blood:
7	chr11:71749313..71752204-chr11:71820647..71824475,4	MCF-7	breast:
8	chr11:71821560..71824482-chr11:71933153..71936536,4	MCF-7	breast:
9	chr11:71722105..71724138-chr11:71823048..71824784,2	K562	blood:
10	chr11:71822998..71823901-chr4:4291230..4291978,2	NB4	blood:
11	chr11:71735248..71738213-chr11:71822405..71824486,2	MCF-7	breast:
12	chr11:71822931..71823488-chr15:65596946..65597463,2	Hela-S3	cervix:
13	chr11:71749172..71754555-chr11:71820034..71825981,11	MCF-7	breast:
14	chr11:71822104..71825137-chr11:71839409..71842719,3	K562	blood:
15	chr11:71813597..71814444-chr11:71822928..71824140,3	Hela-S3	cervix:
16	chr11:71822838..71823476-chr5:16465889..16466515,2	Hela-S3	cervix:
17	chr11:71821479..71826547-chr11:71844956..71851162,6	K562	blood:
18	chr11:71822132..71825937-chr11:71933388..71938158,5	MCF-7	breast:
19	chr11:71822594..71824677-chr11:71937330..71938993,2	MCF-7	breast:
20	chr11:71822981..71823731-chr20:30194739..30195431,3	Hela-S3	cervix:
21	chr11:71822934..71823767-chr16:89989451..89989979,2	NB4	blood:

Variant related genes	Relation type
FOLR3	TF binding region
ANAPC15	TF binding region
ENSG00000110203	Chromatin interaction
ENSG00000254469	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000258947	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000168826	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000263742	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000145220	Chromatin interaction
ENSG00000173545	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000257075	Chromatin interaction

Extended variants
information (count: 182 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs10128658	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.97[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10450664	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs10501408	0.87[CEU][hapmap];0.85[GIH][hapmap]
rs1055452	0.87[CEU][hapmap];0.82[YRI][hapmap]
rs1057992	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs10736781	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs10736783	0.82[CEU][hapmap]
rs10736786	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10751189	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap]
rs10751190	0.81[EUR][1000 genomes]
rs10751191	0.86[CEU][hapmap]
rs10751193	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10793011	0.87[CEU][hapmap]
rs10793016	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.88[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10898814	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898817	0.80[ASN][1000 genomes]
rs11235440	0.83[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];0.83[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235441	0.87[CEU][hapmap]
rs12272213	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12283462	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293195	0.87[CEU][hapmap]
rs12293885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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];0.93[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap]
rs1548348	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs1573500	0.84[ASN][1000 genomes]
rs1573501	0.87[CEU][hapmap]
rs1573502	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17161966	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17161980	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17161991	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1791544	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1806778	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892919	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1892920	0.87[CEU][hapmap]
rs1892921	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs1894003	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[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];0.93[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1939243	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939245	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2155142	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs2187496	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs2250866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2276384	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs2298456	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2298457	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs2503	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2508856	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs2511074	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511075	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511076	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511078	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511079	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511114	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511116	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2511121	0.84[ASN][1000 genomes]
rs2511122	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2845857	0.85[EUR][1000 genomes]
rs28504107	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3018302	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs3018304	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3018308	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3018310	0.82[CEU][hapmap]
rs3133230	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133233	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3750908	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];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814721	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs3829215	0.87[GIH][hapmap]
rs4121395	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];0.93[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs4338555	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4387373	0.87[CEU][hapmap]
rs482013	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs493065	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]
rs4943821	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]
rs4944232	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]
rs4944242	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];0.94[YRI][hapmap]
rs4944243	0.87[CEU][hapmap]
rs4944258	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944259	0.85[ASN][1000 genomes]
rs4945378	0.87[CEU][hapmap]
rs4945392	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs4945426	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4945434	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4945435	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs495567	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs510925	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[LWK][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs517837	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs541022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs542752	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs547208	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs548961	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs552966	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs560777	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs567026	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs57025151	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[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];0.80[MEX][hapmap]
rs579320	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs585228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58991229	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs595062	0.87[CEU][hapmap]
rs597513	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs598835	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs607446	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs610004	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]
rs610041	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]
rs612255	0.86[CEU][hapmap]
rs615000	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs627329	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs636946	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs642573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs642618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs656640	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592447	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs6592448	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];0.94[YRI][hapmap]
rs6592449	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap]
rs6592450	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap]
rs6592451	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs6592453	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];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs6592455	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];0.93[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs6592456	0.87[CEU][hapmap]
rs6592457	0.87[CEU][hapmap]
rs6592458	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6592459	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs659513	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs661290	0.87[CEU][hapmap];0.83[YRI][hapmap]
rs670802	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs671681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs673478	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs675185	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs676721	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs677279	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs678193	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs679926	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs686340	0.87[CEU][hapmap]
rs7101701	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7102192	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap]
rs7103210	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap]
rs7106730	0.85[CEU][hapmap]
rs7111379	0.87[CEU][hapmap]
rs7113436	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs7113549	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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115513	0.87[CEU][hapmap]
rs7116188	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116495	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[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];0.93[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs7123102	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7124000	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7126394	0.87[CEU][hapmap]
rs7126838	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7128317	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];0.88[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs7128974	0.85[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];0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs73531952	0.81[EUR][1000 genomes]
rs73539529	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73539532	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73543609	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73543633	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7480015	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7924834	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs7925411	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs7925604	0.87[CEU][hapmap]
rs7930142	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930544	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930721	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930722	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7931941	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs7937515	0.81[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs7937582	0.86[ASN][1000 genomes]
rs7948821	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];0.94[YRI][hapmap]
rs7949480	0.81[EUR][1000 genomes]
rs947932	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap]
rs949323	0.87[CEU][hapmap];0.96[GIH][hapmap];0.83[YRI][hapmap]
rs949325	0.81[EUR][1000 genomes];0.84[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
rs3793938	NUMA1	cis	uninvolved skin	skin_eQTL
rs3793938	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	chr11:71822200-71823200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr11:71822400-71823200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr11:71822400-71823200	Flanking Active TSS	Rectal Smooth Muscle	rectum
4	chr11:71822400-71823200	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr11:71822400-71823200	Flanking Active TSS	Hela-S3	cervix
6	chr11:71822400-71823200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr11:71822400-71823200	Flanking Active TSS	NH-A	brain
8	chr11:71822400-71823400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr11:71822400-71823600	Weak transcription	Gastric	stomach
10	chr11:71822400-71823600	Weak transcription	Spleen	Spleen
11	chr11:71822400-71824000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:71822600-71823200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:71822600-71823200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:71822600-71823200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr11:71822600-71823200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:71822600-71823200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr11:71822600-71823200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr11:71822600-71823200	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr11:71822600-71823200	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr11:71822600-71823200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr11:71822600-71823200	Flanking Active TSS	HMEC	breast
22	chr11:71822600-71823200	Flanking Active TSS	HUVEC	blood vessel
23	chr11:71822600-71823200	Flanking Active TSS	NHEK	skin
24	chr11:71822600-71823200	Flanking Active TSS	NHLF	lung
25	chr11:71822600-71823200	Flanking Active TSS	Osteobl	bone
26	chr11:71822600-71823400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:71822600-71823400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:71822600-71823400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr11:71822600-71823400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:71822600-71823400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:71822600-71823400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:71822600-71824000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:71822600-71824000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr11:71822600-71824000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:71822600-71824000	Active TSS	HSMM	muscle
36	chr11:71822600-71824200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr11:71822600-71824200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:71822600-71824200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:71822600-71824200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:71822600-71824200	Active TSS	Psoas Muscle	Psoas
41	chr11:71822600-71824200	Active TSS	Right Ventricle	heart
42	chr11:71822600-71824400	Active TSS	H1 Cell Line	embryonic stem cell
43	chr11:71822600-71824400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:71822800-71823200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:71822800-71823200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr11:71822800-71823200	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr11:71822800-71823200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:71822800-71823200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr11:71822800-71823200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr11:71822800-71823200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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Variant report

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