Variant report

Variant	rs17034171
Chromosome Location	chr2:99221095-99221096
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	POLR2A	chr2:99220932-99221825	K562	blood:	n/a	n/a
2	POLR2A	chr2:99220849-99221102	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:99221030-99221323	MCF10A-Er-Src	breast:	n/a	n/a
4	REST	chr2:99220965-99221367	SK-N-SH	brain:	n/a	n/a
5	MYC	chr2:99220943-99221279	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr2:99220954-99222302	GM12892	blood:	n/a	n/a
7	CEBPB	chr2:99221016-99221388	ECC-1	luminal epithelium:	n/a	n/a
8	MXI1	chr2:99220750-99221951	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr2:99221042-99221344	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:99221063-99222045	GM12891	blood:	n/a	n/a
11	POLR2A	chr2:99221052-99221221	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:99220917-99222056	GM12891	blood:	n/a	n/a
13	POLR2A	chr2:99221094-99221788	Hela-S3	cervix:	n/a	n/a
14	NFIC	chr2:99220970-99221516	ECC-1	luminal epithelium:	n/a	chr2:99221280-99221296 chr2:99221280-99221297
15	EP300	chr2:99220964-99221456	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr2:99221041-99221420	ECC-1	luminal epithelium:	n/a	n/a
17	POU2F2	chr2:99221010-99221317	GM12891	blood:	n/a	n/a
18	POLR2A	chr2:99221082-99222457	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:99221007-99221544	GM12892	blood:	n/a	n/a
20	FOS	chr2:99221076-99221321	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr2:99220955-99222017	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr2:99220912-99222185	GM12878	blood:	n/a	n/a
23	NFIC	chr2:99220877-99221613	ECC-1	luminal epithelium:	n/a	chr2:99221280-99221296 chr2:99221280-99221297
24	POLR2A	chr2:99220978-99221395	GM12891	blood:	n/a	n/a
25	MYC	chr2:99220920-99221322	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99220491..99222361-chr2:99223823..99225591,2	MCF-7	breast:

Variant related genes	Relation type
UNC50	TF binding region
ENSG00000115446	Chromatin interaction
ENSG00000183513	Chromatin interaction

Extended variants
information (count: 169 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs10199199	0.83[EUR][1000 genomes]
rs10496327	0.85[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes]
rs10514774	0.83[EUR][1000 genomes]
rs1139829	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11537554	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11884553	0.93[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.81[MKK][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11888595	0.87[EUR][1000 genomes]
rs11892744	0.85[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11896729	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901568	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11902825	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12052639	0.88[EUR][1000 genomes]
rs12617721	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12618524	0.92[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes]
rs12618769	0.91[YRI][hapmap]
rs12619665	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12622341	0.87[EUR][1000 genomes]
rs13402379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1516085	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1587835	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs17031139	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031146	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031905	0.86[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17032120	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17032866	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17032870	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17033136	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17033813	0.95[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17034241	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17444095	0.86[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs17446058	0.90[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17502889	0.83[EUR][1000 genomes]
rs17504774	0.86[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17505088	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17505326	0.90[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17506535	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17513468	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1847550	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2230388	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276603	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2278206	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2278207	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2278208	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2278211	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2278212	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2278213	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2278214	0.86[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2309390	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3203856	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34906456	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3729568	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3754871	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3754872	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3754875	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3754877	0.95[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3754878	0.95[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3754879	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754880	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754881	0.86[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754883	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754884	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754885	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754886	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3754888	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754889	0.86[EUR][1000 genomes]
rs3754890	0.88[EUR][1000 genomes]
rs3754891	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754892	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs3754893	0.84[EUR][1000 genomes]
rs3769697	0.91[YRI][hapmap]
rs3769698	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3769701	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769708	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769709	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769712	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3769713	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769715	0.86[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769716	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769717	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769719	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769723	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769724	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769725	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769726	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769727	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769728	0.86[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769729	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769730	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769733	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769734	0.88[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3769735	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769736	0.88[EUR][1000 genomes]
rs3769737	0.86[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs3769738	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769740	0.86[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769741	0.86[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769743	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3820941	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3820943	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3820945	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4596026	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4599165	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850874	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850875	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes]
rs4850876	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850877	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850878	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850879	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4851131	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4851136	0.86[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes]
rs4851138	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs4851140	0.88[EUR][1000 genomes]
rs4851141	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4851142	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4851144	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4851145	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851146	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55900716	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55934321	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56091613	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56118505	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56141907	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56197140	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56232707	0.83[EUR][1000 genomes]
rs56240302	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56333112	0.82[EUR][1000 genomes]
rs56357378	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58778964	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61180742	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6542754	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6728891	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6736755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6753380	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6753515	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72819965	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72819970	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72819971	0.83[EUR][1000 genomes]
rs72819972	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72819981	0.83[EUR][1000 genomes]
rs72819996	0.86[EUR][1000 genomes]
rs72820002	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821904	0.88[EUR][1000 genomes]
rs72821907	0.88[EUR][1000 genomes]
rs72821908	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72821920	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821924	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821930	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821939	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821943	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821946	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821951	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821955	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821956	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821965	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823788	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823794	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823796	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823801	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7560357	0.82[YRI][hapmap]
rs7562232	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7585747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585939	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7593615	0.83[EUR][1000 genomes]
rs7595120	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs961242	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS 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 target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17034171	UNC50	cis	lymphoblastoid	seeQTL
rs17034171	INPP4A	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99169400-99222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:99199600-99223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:99201800-99223000	Weak transcription	Stomach Mucosa	stomach
4	chr2:99203000-99222800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:99210800-99223200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:99211000-99221200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:99212200-99222800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:99212600-99221400	Strong transcription	Liver	Liver
9	chr2:99212600-99223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:99213000-99222400	Strong transcription	Primary B cells from cord blood	blood
11	chr2:99213000-99222600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr2:99213000-99223000	Strong transcription	Fetal Thymus	thymus
13	chr2:99213200-99221200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:99213200-99221400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:99213200-99223600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:99214000-99221400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:99214200-99223000	Weak transcription	Fetal Brain Male	brain
18	chr2:99214400-99222600	Weak transcription	Brain Angular Gyrus	brain
19	chr2:99214800-99222600	Strong transcription	Primary hematopoietic stem cells	blood
20	chr2:99216800-99222400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:99216800-99223600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:99217000-99221200	Weak transcription	HMEC	breast
23	chr2:99217000-99221600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:99217000-99223400	Weak transcription	A549	lung
25	chr2:99217000-99223600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:99217200-99221800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:99217200-99223600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:99217200-99223600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:99217400-99223000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:99217400-99223000	Weak transcription	Osteobl	bone
31	chr2:99217400-99223600	Weak transcription	NH-A	brain
32	chr2:99217600-99222400	Weak transcription	Small Intestine	intestine
33	chr2:99217600-99222600	Weak transcription	Brain Germinal Matrix	brain
34	chr2:99218400-99221200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:99218400-99221200	Weak transcription	Fetal Lung	lung
36	chr2:99218400-99221600	Weak transcription	NHEK	skin
37	chr2:99218400-99222400	Weak transcription	Aorta	Aorta
38	chr2:99218400-99222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:99218400-99222600	Weak transcription	Gastric	stomach
40	chr2:99218400-99222600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:99218400-99222600	Weak transcription	Spleen	Spleen
42	chr2:99218400-99222800	Weak transcription	Esophagus	oesophagus
43	chr2:99218400-99222800	Weak transcription	Pancreas	Pancrea
44	chr2:99218400-99223400	Weak transcription	NHLF	lung
45	chr2:99218600-99221400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:99218600-99221800	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:99218600-99223000	Weak transcription	Ovary	ovary
48	chr2:99218600-99223400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:99218800-99221200	Weak transcription	Hela-S3	cervix
50	chr2:99218800-99221200	Weak transcription	NHDF-Ad	bronchial

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