Variant report

Variant	rs4851145
Chromosome Location	chr2:99222916-99222917
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	chr2:99222297-99227404	K562	blood:	n/a	n/a
2	MAFK	chr2:99222696-99223281	HepG2	liver:	n/a	n/a
3	MAFK	chr2:99222749-99222946	IMR90	lung:	n/a	n/a
4	POLR2A	chr2:99222591-99226334	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:99222868-99223034	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr2:99222643-99223494	GM12891	blood:	n/a	n/a
7	POLR2A	chr2:99222596-99223813	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:99222835-99223566	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99221557..99223102-chr2:99346482..99348239,2	MCF-7	breast:
2	chr2:99221188..99224105-chr2:99225000..99227009,2	K562	blood:
3	chr2:99204321..99207131-chr2:99222784..99224374,2	K562	blood:
4	chr2:99176669..99178423-chr2:99222546..99224803,2	K562	blood:

Variant related genes	Relation type
COA5	TF binding region
UNC50	TF binding region
ENSG00000115446	Chromatin interaction
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 168 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:166)

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	0.96[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];0.80[YRI][hapmap];0.96[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];0.83[MEX][hapmap];0.83[TSI][hapmap];0.87[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];0.84[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];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901568	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11902825	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12052639	0.88[EUR][1000 genomes]
rs12617721	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12618524	0.92[CHB][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs12618769	0.83[YRI][hapmap]
rs12619665	0.87[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];1.00[TSI][hapmap];0.97[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];0.94[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];0.83[EUR][1000 genomes]
rs17031139	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031146	0.82[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];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17032120	0.82[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];0.87[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];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17033136	0.87[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];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17034171	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]
rs17034241	0.97[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];0.80[YRI][hapmap];0.90[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];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17505088	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17505326	0.90[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17506535	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17513468	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1847550	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2230388	0.92[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];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2278206	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2278207	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2278208	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2278211	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2278212	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[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];0.83[MEX][hapmap];0.85[TSI][hapmap];0.83[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];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2309390	0.87[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];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34906456	0.95[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];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3754871	1.00[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];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[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];0.80[YRI][hapmap];0.95[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];0.87[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];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3754879	0.90[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];0.87[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];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754883	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754884	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754885	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754886	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3754888	0.82[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];0.82[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	0.83[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];0.93[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.92[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];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.94[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];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769709	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769712	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3769713	0.82[AFR][1000 genomes];0.90[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];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769716	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769717	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769719	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769723	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769724	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769725	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769726	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769727	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[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];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769729	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769730	0.88[EUR][1000 genomes]
rs3769733	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769734	0.88[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3769735	0.82[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];0.88[EUR][1000 genomes]
rs3769738	0.82[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];0.82[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];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769743	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3820941	0.87[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];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3820945	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4596026	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4599165	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850874	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850875	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes]
rs4850876	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850877	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850878	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850879	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4851131	0.83[EUR][1000 genomes]
rs4851136	0.86[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][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	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4851142	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4851144	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[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];0.88[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55900716	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55934321	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56091613	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56118505	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56141907	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56197140	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56232707	0.83[EUR][1000 genomes]
rs56240302	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56333112	0.82[EUR][1000 genomes]
rs56357378	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58778964	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61180742	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6542754	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6728891	0.82[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];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6753380	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6753515	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72819965	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72819970	0.83[EUR][1000 genomes]
rs72819971	0.83[EUR][1000 genomes]
rs72819972	0.83[EUR][1000 genomes]
rs72819981	0.83[EUR][1000 genomes]
rs72819996	0.86[EUR][1000 genomes]
rs72820002	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821904	0.88[EUR][1000 genomes]
rs72821907	0.88[EUR][1000 genomes]
rs72821908	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72821920	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821924	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821930	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821939	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821943	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821946	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821951	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821955	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821956	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821965	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823788	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823792	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823794	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823796	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823801	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7562232	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7585747	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585939	0.94[AFR][1000 genomes];0.99[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];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7593615	0.83[EUR][1000 genomes]
rs7595120	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs961242	0.87[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4851145	UNC50	cis	multi-tissue	Pritchard
rs4851145	UNC50	cis	lymphoblastoid	seeQTL
rs4851145	INPP4A	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99199600-99223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:99201800-99223000	Weak transcription	Stomach Mucosa	stomach
3	chr2:99210800-99223200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:99212600-99223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:99213000-99223000	Strong transcription	Fetal Thymus	thymus
6	chr2:99213200-99223600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:99214200-99223000	Weak transcription	Fetal Brain Male	brain
8	chr2:99216800-99223600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:99217000-99223400	Weak transcription	A549	lung
10	chr2:99217000-99223600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:99217200-99223600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:99217200-99223600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:99217400-99223000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:99217400-99223000	Weak transcription	Osteobl	bone
15	chr2:99217400-99223600	Weak transcription	NH-A	brain
16	chr2:99218400-99223400	Weak transcription	NHLF	lung
17	chr2:99218600-99223000	Weak transcription	Ovary	ovary
18	chr2:99218600-99223400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:99219000-99223000	Weak transcription	Fetal Stomach	stomach
20	chr2:99219200-99223000	Weak transcription	Fetal Intestine Small	intestine
21	chr2:99219400-99223000	Weak transcription	GM12878-XiMat	blood
22	chr2:99219600-99223000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:99219600-99223000	Weak transcription	Fetal Brain Female	brain
24	chr2:99219600-99223200	Weak transcription	Colonic Mucosa	Colon
25	chr2:99219600-99223600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:99219800-99223000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:99219800-99223000	Weak transcription	Lung	lung
28	chr2:99219800-99223000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:99219800-99223200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:99220400-99223000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:99220400-99223000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:99220400-99223000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:99220400-99223000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:99220400-99223000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:99220400-99223000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:99220400-99223000	Weak transcription	Fetal Kidney	kidney
37	chr2:99220400-99223000	Weak transcription	Thymus	Thymus
38	chr2:99220400-99223200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:99220400-99223200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:99220400-99223200	Weak transcription	HUVEC	blood vessel
41	chr2:99220400-99223600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:99220400-99223600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:99220600-99223200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:99220600-99223200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:99220600-99223600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:99220800-99223200	Weak transcription	Placenta	Placenta
47	chr2:99220800-99223200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr2:99221000-99223000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:99221000-99223000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:99221200-99223400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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