Variant report

Variant	rs7588254
Chromosome Location	chr2:99217785-99217786
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99213680..99215194-chr2:99216764..99218713,2	K562	blood:
2	chr2:99061209..99062903-chr2:99217344..99218850,2	MCF-7	breast:
3	chr2:99029012..99029632-chr2:99217701..99218683,3	MCF-7	breast:
4	chr2:99185377..99186027-chr2:99217737..99218658,5	MCF-7	breast:
5	chr2:99202284..99204061-chr2:99215340..99218167,2	K562	blood:
6	chr2:99185336..99186312-chr2:99217722..99218655,3	MCF-7	breast:
7	chr2:99216487..99219446-chr2:99221930..99223706,2	MCF-7	breast:
8	chr2:99216815..99218987-chr2:99219772..99221758,2	K562	blood:
9	chr2:99216577..99219354-chr2:99224806..99226703,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000040933	Chromatin interaction
ENSG00000183513	Chromatin interaction
ENSG00000115446	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:164)

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];0.87[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];0.87[ASN][1000 genomes]
rs11884553	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[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]
rs11896729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[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]
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];0.84[ASN][1000 genomes]
rs12618524	0.92[CHB][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs12619665	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12622341	0.87[EUR][1000 genomes]
rs13402379	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1516085	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[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];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1587835	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][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[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.80[MKK][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];0.84[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];0.87[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];0.87[ASN][1000 genomes]
rs17033136	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[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];0.89[ASN][1000 genomes]
rs17034171	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]
rs17034241	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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];0.83[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];0.84[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];0.80[ASN][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];0.87[ASN][1000 genomes]
rs17513468	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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];0.89[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];0.89[ASN][1000 genomes]
rs2278206	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2278207	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2278208	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][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];0.87[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];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[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];0.87[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];0.87[ASN][1000 genomes]
rs34906456	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3729568	0.88[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];0.84[MEX][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754871	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3754872	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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];0.89[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];0.89[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];0.85[ASN][1000 genomes]
rs3754879	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[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];0.87[ASN][1000 genomes]
rs3754881	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3754883	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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];0.84[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];0.84[ASN][1000 genomes]
rs3754892	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs3754893	0.84[EUR][1000 genomes]
rs3769698	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];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769701	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769708	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769709	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769712	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3769713	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[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];0.84[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];0.87[ASN][1000 genomes]
rs3769723	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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];0.87[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];0.87[ASN][1000 genomes]
rs3769728	0.86[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][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];0.87[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[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3769735	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[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	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3769740	0.86[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.84[MEX][hapmap];0.85[MKK][hapmap];0.87[TSI][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769741	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.83[MKK][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];0.84[ASN][1000 genomes]
rs3820943	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][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];0.87[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];0.86[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];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4851144	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4851145	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]
rs4851146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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];0.87[ASN][1000 genomes]
rs56197140	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[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];0.87[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[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];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753380	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6753515	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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];0.84[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];0.87[ASN][1000 genomes]
rs72821930	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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];0.87[ASN][1000 genomes]
rs72821946	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72821951	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72821955	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72821956	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72821965	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823788	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72823792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823801	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7562232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7585747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7585939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7593615	0.83[EUR][1000 genomes]
rs7595120	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs961242	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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
rs7588254	UNC50	cis	lymphoblastoid	seeQTL
rs7588254	INPP4A	cis	lymphoblastoid	seeQTL
rs7588254	UNC50	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 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	chr2:99177400-99221000	Weak transcription	Psoas Muscle	Psoas
3	chr2:99194200-99220800	Weak transcription	Fetal Heart	heart
4	chr2:99199600-99223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:99201200-99217800	Weak transcription	Esophagus	oesophagus
6	chr2:99201800-99223000	Weak transcription	Stomach Mucosa	stomach
7	chr2:99203000-99222800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:99210800-99223200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:99211000-99221200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:99212200-99220600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:99212200-99220800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:99212200-99222800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:99212400-99218200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:99212600-99220400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:99212600-99220400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:99212600-99220400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:99212600-99220400	Strong transcription	Dnd41	blood
18	chr2:99212600-99220800	Strong transcription	Placenta	Placenta
19	chr2:99212600-99221400	Strong transcription	Liver	Liver
20	chr2:99212600-99223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:99212800-99219600	Strong transcription	Primary T cells from cord blood	blood
22	chr2:99212800-99219600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:99212800-99220400	Strong transcription	Adipose Nuclei	Adipose
24	chr2:99213000-99218200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:99213000-99220000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:99213000-99220600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr2:99213000-99220800	Strong transcription	HSMM	muscle
28	chr2:99213000-99222400	Strong transcription	Primary B cells from cord blood	blood
29	chr2:99213000-99222600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr2:99213000-99223000	Strong transcription	Fetal Thymus	thymus
31	chr2:99213200-99220600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:99213200-99220600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:99213200-99221200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:99213200-99221400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:99213200-99223600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:99213400-99220400	Strong transcription	HepG2	liver
37	chr2:99213600-99219600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:99213600-99219600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr2:99213600-99220600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:99213800-99218400	Strong transcription	Fetal Lung	lung
41	chr2:99213800-99219600	Strong transcription	Fetal Brain Female	brain
42	chr2:99213800-99219800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:99213800-99220400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:99213800-99220400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:99213800-99220600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:99213800-99221000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:99214000-99218600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:99214000-99219600	Strong transcription	Fetal Muscle Leg	muscle
49	chr2:99214000-99220400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:99214000-99220400	Strong transcription	Thymus	Thymus

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