Variant report

Variant	rs3018301
Chromosome Location	chr11:71792071-71792072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF7	chr11:71791237-71792242	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr11:71791327-71792226	A549	lung:	n/a	chr11:71791937-71791952 chr11:71791941-71791948 chr11:71791938-71791949 chr11:71791941-71791948 chr11:71791657-71791672 chr11:71791937-71791949 chr11:71791941-71791948 chr11:71791603-71791612 chr11:71791940-71791949
3	FOXM1	chr11:71791152-71792157	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr11:71791525-71792089	A549	lung:	n/a	chr11:71791666-71791675 chr11:71791605-71791621 chr11:71791643-71791652
5	SIN3AK20	chr11:71791466-71792237	PFSK-1	brain:	n/a	n/a
6	REST	chr11:71791402-71792210	K562	blood:	n/a	chr11:71791569-71791576
7	MAX	chr11:71790947-71792204	SK-N-SH	brain:	n/a	chr11:71791862-71791871 chr11:71791321-71791331 chr11:71791604-71791614
8	RCOR1	chr11:71790576-71792118	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:71791310-71792306	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr11:71791266-71792392	MCF-7	breast:	n/a	chr11:71791862-71791871 chr11:71791321-71791331 chr11:71791604-71791614
11	E2F4	chr11:71791321-71792183	K562	blood:	n/a	chr11:71791937-71791952 chr11:71791941-71791948 chr11:71791941-71791948 chr11:71791657-71791672 chr11:71791937-71791949 chr11:71791941-71791948 chr11:71791603-71791612 chr11:71791940-71791949
12	YY1	chr11:71791573-71792381	H1-hESC	embryonic stem cell:	n/a	chr11:71791603-71791612 chr11:71791601-71791615
13	HCFC1	chr11:71789401-71793053	Hela-S3	cervix:	n/a	n/a
14	TFAP2C	chr11:71791366-71792224	Hela-S3	cervix:	n/a	chr11:71791884-71791899
15	POLR2A	chr11:71791251-71792243	HUVEC	blood vessel:	n/a	n/a
16	ELK1	chr11:71791427-71792075	Hela-S3	cervix:	n/a	n/a
17	ATF3	chr11:71791623-71792075	K562	blood:	n/a	n/a
18	SIN3AK20	chr11:71791719-71792226	A549	lung:	n/a	n/a
19	E2F4	chr11:71791379-71792098	GM12878	blood:	n/a	chr11:71791937-71791952 chr11:71791941-71791948 chr11:71791941-71791948 chr11:71791657-71791672 chr11:71791937-71791949 chr11:71791941-71791948 chr11:71791603-71791612 chr11:71791940-71791949
20	RELA	chr11:71791406-71792115	GM18951	blood:	n/a	n/a
21	POLR2A	chr11:71791201-71792209	IMR90	lung:	n/a	n/a
22	ZNF143	chr11:71791284-71792083	GM12878	blood:	n/a	chr11:71791749-71791758 chr11:71791747-71791756 chr11:71791747-71791765
23	HDAC2	chr11:71791336-71792090	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:71791077-71792139	GM12891	blood:	n/a	n/a
25	PRDM1	chr11:71791747-71792072	Hela-S3	cervix:	n/a	n/a
26	SIN3AK20	chr11:71791702-71792193	A549	lung:	n/a	n/a
27	POLR2A	chr11:71791291-71792413	HUVEC	blood vessel:	n/a	n/a
28	NFYB	chr11:71791379-71792130	K562	blood:	n/a	chr11:71791623-71791637 chr11:71791624-71791639 chr11:71791624-71791637 chr11:71791622-71791637 chr11:71791622-71791637
29	POLR2A	chr11:71791023-71792178	K562	blood:	n/a	n/a
30	ELF1	chr11:71791350-71792149	HepG2	liver:	n/a	chr11:71791708-71791721
31	GTF2F1	chr11:71791384-71792099	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:71791103-71792239	K562	blood:	n/a	n/a
33	ELF1	chr11:71791209-71792263	MCF-7	breast:	n/a	chr11:71791708-71791721
34	HEY1	chr11:71791076-71792094	HepG2	liver:	n/a	n/a
35	ATF1	chr11:71791530-71792198	K562	blood:	n/a	n/a
36	MAX	chr11:71791150-71792181	SK-N-SH	brain:	n/a	chr11:71791862-71791871 chr11:71791321-71791331 chr11:71791604-71791614
37	UBTF	chr11:71790855-71792206	K562	blood:	n/a	n/a
38	POLR2A	chr11:71790689-71793835	MCF10A-Er-Src	breast:	n/a	n/a
39	CREB1	chr11:71791324-71792167	HepG2	liver:	n/a	n/a
40	ELF1	chr11:71790822-71792296	HCT-116	colon:	n/a	chr11:71791708-71791721
41	REST	chr11:71791807-71792073	A549	lung:	n/a	n/a
42	POLR2A	chr11:71791238-71792131	GM18951	blood:	n/a	n/a
43	RFX5	chr11:71791324-71792481	H1-hESC	embryonic stem cell:	n/a	chr11:71791859-71791873 chr11:71791862-71791871 chr11:71791858-71791873 chr11:71791625-71791634
44	POLR2A	chr11:71791110-71792170	K562	blood:	n/a	n/a
45	TAF1	chr11:71791321-71792201	H1-neurons	neurons:	n/a	n/a
46	FOSL2	chr11:71791333-71792148	A549	lung:	n/a	chr11:71791624-71791633
47	SIX5	chr11:71791419-71792153	A549	lung:	n/a	chr11:71791696-71791712 chr11:71791696-71791712 chr11:71791696-71791712 chr11:71791749-71791758 chr11:71791696-71791712 chr11:71791663-71791677 chr11:71791696-71791712 chr11:71791747-71791756 chr11:71791696-71791712
48	IRF1	chr11:71790761-71792195	K562	blood:	n/a	chr11:71791777-71791791 chr11:71791599-71791613
49	GABPA	chr11:71791454-71792198	HL-60	blood:	n/a	chr11:71791603-71791612
50	GTF2F1	chr11:71791449-71792111	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71780787..71782950-chr11:71789834..71792937,3	MCF-7	breast:
2	chr11:71707937..71711570-chr11:71790035..71793811,3	K562	blood:
3	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
4	chr11:71735278..71739296-chr11:71791106..71793307,3	MCF-7	breast:
5	chr11:71791097..71793532-chr11:71809805..71812079,4	MCF-7	breast:
6	chr11:71790877..71793243-chr11:71934127..71937254,3	K562	blood:
7	chr11:71791686..71794615-chr11:71803298..71806095,2	MCF-7	breast:
8	chr11:71792007..71794260-chr11:71797315..71799047,2	MCF-7	breast:
9	chr11:71748762..71757629-chr11:71789138..71799261,28	MCF-7	breast:
10	chr11:71791494..71792387-chr16:71929263..71929932,2	Hela-S3	cervix:
11	chr11:71791731..71794694-chr11:71822498..71824725,2	MCF-7	breast:
12	chr11:71789323..71798359-chr11:71810049..71815293,14	MCF-7	breast:
13	chr11:71638248..71640782-chr11:71791184..71792782,2	K562	blood:
14	chr11:71781171..71786362-chr11:71787519..71793039,9	K562	blood:

Variant related genes	Relation type
LRTOMT	TF binding region
NUMA1	TF binding region
ENSG00000212089	TF binding region
ENSG00000137522	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000238768	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000137496	Chromatin interaction
ENSG00000263742	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000254469	Chromatin interaction

Extended variants
information (count: 189 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:187)

rs_ID	r²[population]
rs10128658	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];0.83[EUR][1000 genomes];0.86[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];0.94[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];0.95[ASN][1000 genomes]
rs10751189	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];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	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793011	0.87[CEU][hapmap]
rs10793016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[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]
rs10898814	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898817	0.81[ASN][1000 genomes]
rs11235440	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];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235441	0.87[CEU][hapmap]
rs12272213	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12283462	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12293195	0.87[CEU][hapmap]
rs12293885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1541304	0.87[CEU][hapmap]
rs1541306	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[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];0.85[ASN][1000 genomes]
rs1573501	0.87[CEU][hapmap]
rs1573502	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];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17161966	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];0.94[ASN][1000 genomes]
rs17161980	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]
rs17161991	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1791544	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806778	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1892919	0.88[EUR][1000 genomes];0.82[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];0.88[ASN][1000 genomes]
rs1894004	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs1939242	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]
rs1939243	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939245	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[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];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2276384	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs2298456	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];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2298457	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]
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];0.94[ASN][1000 genomes]
rs2511075	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511076	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511078	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511114	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];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511116	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511121	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2511122	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2845857	0.88[EUR][1000 genomes]
rs28504107	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2885880	0.81[EUR][1000 genomes]
rs3018302	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]
rs3018304	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018308	0.98[ASN][1000 genomes]
rs3018310	0.82[CEU][hapmap]
rs3133230	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133233	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3750908	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]
rs3793938	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]
rs3814721	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[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];0.97[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];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]
rs4387373	0.87[CEU][hapmap]
rs482013	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs493065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4943821	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]
rs4944232	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]
rs4944242	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]
rs4944243	0.87[CEU][hapmap]
rs4944258	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944259	0.86[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];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4945434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4945435	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs495567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510925	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs517837	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs542097	0.87[CEU][hapmap]
rs542752	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs547208	0.92[ASN][1000 genomes]
rs548961	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560777	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];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56097487	0.86[EUR][1000 genomes]
rs567026	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs57025151	0.95[EUR][1000 genomes];0.92[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];0.95[ASN][1000 genomes]
rs58991229	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs595062	0.87[CEU][hapmap]
rs597513	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs598835	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs612255	0.86[CEU][hapmap]
rs615000	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs627329	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs636946	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs642618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656640	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592447	0.87[CEU][hapmap];0.91[GIH][hapmap]
rs6592448	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]
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];0.97[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];0.97[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];0.97[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];0.97[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];0.92[ASN][1000 genomes]
rs6592459	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs659513	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]
rs661290	0.87[CEU][hapmap]
rs670802	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs671681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs673478	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];0.98[ASN][1000 genomes]
rs675185	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs676721	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs677279	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs678193	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679926	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];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs686340	0.87[CEU][hapmap]
rs7101701	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7102192	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[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];0.97[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];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7115513	0.87[CEU][hapmap]
rs7116188	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7116495	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7121080	0.87[CEU][hapmap]
rs7121260	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[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];0.94[ASN][1000 genomes]
rs7123992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs7124000	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7126394	0.87[CEU][hapmap]
rs7126838	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7127865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7128317	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[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];0.97[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	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73539532	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543609	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543633	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7480015	0.84[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];0.86[ASN][1000 genomes]
rs7930544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930721	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930722	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7931941	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[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];0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7937582	0.86[ASN][1000 genomes]
rs7943227	0.81[EUR][1000 genomes]
rs7948821	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]
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];0.85[ASN][1000 genomes]
rs949326	0.87[CEU][hapmap];0.91[GIH][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
rs3018301	NUMA1	cis	uninvolved skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71789400-71792200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr11:71789400-71792800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:71789600-71792400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:71789600-71792600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:71789800-71792400	Active TSS	Fetal Kidney	kidney
6	chr11:71789800-71792800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:71790000-71792200	Active TSS	Right Atrium	heart
8	chr11:71790000-71792400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr11:71790000-71792400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:71790000-71792600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:71790000-71792600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:71790000-71792600	Active TSS	Psoas Muscle	Psoas
13	chr11:71790200-71792200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:71790200-71792200	Active TSS	Stomach Mucosa	stomach
15	chr11:71790200-71792200	Active TSS	NHDF-Ad	bronchial
16	chr11:71790200-71792400	Active TSS	Ovary	ovary
17	chr11:71790200-71792600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:71790200-71792600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:71790200-71792600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:71790200-71792600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:71790200-71792600	Active TSS	Fetal Brain Female	brain
22	chr11:71790200-71792600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:71790200-71792600	Active TSS	A549	lung
24	chr11:71790200-71792600	Active TSS	K562	blood
25	chr11:71790200-71792800	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:71790400-71792200	Active TSS	Brain Cingulate Gyrus	brain
27	chr11:71790400-71792200	Active TSS	Fetal Intestine Small	intestine
28	chr11:71790400-71792200	Active TSS	Pancreas	Pancrea
29	chr11:71790400-71792400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:71790400-71792600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:71790400-71792600	Active TSS	Right Ventricle	heart
32	chr11:71790600-71792200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:71790600-71792200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:71790600-71792200	Active TSS	Placenta	Placenta
35	chr11:71790600-71792200	Active TSS	Gastric	stomach
36	chr11:71790600-71792200	Active TSS	Small Intestine	intestine
37	chr11:71790600-71792400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:71790600-71792400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:71790600-71792400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr11:71790600-71792600	Active TSS	H1 Cell Line	embryonic stem cell
41	chr11:71790600-71792600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr11:71790600-71792600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:71790800-71792200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:71790800-71792200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:71790800-71792200	Active TSS	Brain Germinal Matrix	brain
46	chr11:71790800-71792200	Active TSS	Brain Substantia Nigra	brain
47	chr11:71790800-71792200	Active TSS	Colon Smooth Muscle	Colon
48	chr11:71790800-71792200	Active TSS	Fetal Heart	heart
49	chr11:71790800-71792200	Active TSS	Fetal Lung	lung
50	chr11:71790800-71792200	Active TSS	Fetal Stomach	stomach

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Variant report

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