Variant report

Variant	rs2864873
Chromosome Location	chr1:150814174-150814175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150807087..150808986-chr1:150811625..150814317,2	MCF-7	breast:
2	chr1:150813417..150816056-chr1:150946516..150948387,2	K562	blood:
3	chr1:150800531..150803502-chr1:150811550..150815655,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143418	Chromatin interaction
ENSG00000143437	Chromatin interaction

Extended variants
information (count: 162 )
Associated
traits (count: 39 )

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs1027699	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10305664	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10305667	0.82[ASN][1000 genomes]
rs10305672	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10305673	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10305704	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10305711	1.00[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10305714	1.00[ASW][hapmap];0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10305720	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10399947	0.89[EUR][1000 genomes]
rs10788792	0.91[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.87[YRI][hapmap]
rs10788794	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10888391	0.82[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10888392	0.89[EUR][1000 genomes]
rs10888393	0.83[EUR][1000 genomes]
rs10888394	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10888395	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10888397	0.80[ASW][hapmap];0.88[CEU][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs10888398	1.00[CEU][hapmap];0.82[GIH][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs11204691	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap]
rs11204697	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs11204698	0.91[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[YRI][hapmap]
rs11204704	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs11204722	0.82[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11204723	0.82[EUR][1000 genomes]
rs11204726	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11204733	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11204739	0.86[EUR][1000 genomes]
rs11204742	0.84[EUR][1000 genomes]
rs11204747	0.85[EUR][1000 genomes]
rs11204748	0.84[EUR][1000 genomes]
rs11204749	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs1136808	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap]
rs11552229	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11581757	0.80[ASW][hapmap];0.88[CEU][hapmap];0.80[GIH][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs11582281	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11586422	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs11587444	0.91[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap]
rs11589458	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11589886	0.87[EUR][1000 genomes]
rs11800855	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803569	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs11803940	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs11804276	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs11807409	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs11807450	0.90[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap]
rs12063547	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap]
rs12068264	0.81[EUR][1000 genomes]
rs12072339	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap]
rs12075597	0.87[EUR][1000 genomes]
rs12085336	0.82[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[MKK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12086472	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs12089989	0.88[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs12090215	0.85[EUR][1000 genomes]
rs12096831	0.87[EUR][1000 genomes]
rs12097963	0.86[EUR][1000 genomes]
rs12402939	0.91[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap]
rs12403255	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs12406660	0.82[ASN][1000 genomes]
rs12409208	0.88[CEU][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];0.84[LWK][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs12410394	0.87[EUR][1000 genomes]
rs12410869	1.00[CEU][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs1336899	0.91[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[YRI][hapmap]
rs1336900	0.91[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap]
rs1415148	0.88[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.87[YRI][hapmap]
rs1532770	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16827671	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17658705	0.88[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs17660092	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1889740	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];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1889741	1.00[CEU][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs1972060	0.84[EUR][1000 genomes]
rs2089082	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2124952	0.88[CEU][hapmap]
rs2184833	0.91[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[YRI][hapmap]
rs2228099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230061	0.81[EUR][1000 genomes]
rs2256355	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271076	0.86[EUR][1000 genomes]
rs2272214	0.88[CEU][hapmap];0.80[GIH][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap]
rs2275235	0.84[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.91[YRI][hapmap];0.82[EUR][1000 genomes]
rs2275236	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs2280627	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2864869	0.82[EUR][1000 genomes]
rs2864871	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2864882	0.91[EUR][1000 genomes]
rs2867297	0.86[EUR][1000 genomes]
rs2867301	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap]
rs2867302	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap]
rs36008098	0.93[EUR][1000 genomes]
rs3754212	0.83[EUR][1000 genomes]
rs3768005	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs3768013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3768015	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3768016	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3768018	0.82[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3849279	1.00[CEU][hapmap];0.82[GIH][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs4319334	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4451553	0.84[CEU][hapmap];0.80[GIH][hapmap];0.92[MKK][hapmap];0.81[TSI][hapmap]
rs4509581	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4537557	0.82[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.91[YRI][hapmap];0.82[EUR][1000 genomes]
rs4970928	0.81[EUR][1000 genomes]
rs4970930	0.84[EUR][1000 genomes]
rs4970931	0.86[EUR][1000 genomes]
rs4970980	0.94[EUR][1000 genomes]
rs4970982	0.87[EUR][1000 genomes]
rs4970984	0.91[EUR][1000 genomes]
rs4970985	0.91[EUR][1000 genomes]
rs4970987	0.87[CEU][hapmap]
rs4970988	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs57818453	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59337856	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6587516	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap]
rs6587518	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs6587542	0.86[EUR][1000 genomes]
rs6657388	0.83[EUR][1000 genomes]
rs6660084	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6660845	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6661415	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap]
rs6669855	0.89[EUR][1000 genomes]
rs6671737	0.83[EUR][1000 genomes]
rs6678013	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs66847267	0.91[EUR][1000 genomes]
rs6686064	0.86[EUR][1000 genomes]
rs6700022	0.90[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[YRI][hapmap]
rs72704639	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72704652	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72704654	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72704656	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72704658	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72704679	0.89[EUR][1000 genomes]
rs72704682	0.82[EUR][1000 genomes]
rs72704685	0.81[EUR][1000 genomes]
rs7412396	0.88[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap]
rs7418501	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap]
rs7511673	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs7514004	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7518156	0.81[EUR][1000 genomes]
rs7521592	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7521898	0.91[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap]
rs752376	1.00[CEU][hapmap];0.80[GIH][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs7524620	0.84[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap]
rs7526489	0.81[EUR][1000 genomes]
rs7529194	0.90[CHB][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap]
rs7532045	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];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7538493	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs7540874	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs7556451	0.85[EUR][1000 genomes]
rs7556661	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs8444	0.88[CEU][hapmap];0.80[GIH][hapmap];0.84[LWK][hapmap];0.89[MKK][hapmap];0.85[TSI][hapmap]
rs868751	0.91[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[YRI][hapmap]
rs897815	0.88[CEU][hapmap];0.86[GIH][hapmap];0.84[LWK][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs951281	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs9661876	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv872420	chr1:150786038-150847647	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1010875	chr1:150796816-150845827	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv1793983	chr1:150804748-150825924	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:39)

SNP	Gene	Cis/trans	Tissue	Source
rs2864873	ARNT	cis	cerebellum	SCAN
rs2864873	RP11-316M1.12	cis	Muscle Skeletal	GTEx
rs2864873	RP11-316M1.12	cis	Heart Left Ventricle	GTEx
rs2864873	RP11-316M1.12	cis	Esophagus Muscularis	GTEx
rs2864873	RORC	cis	parietal	SCAN
rs2864873	ARNT	Cis_1M	lymphoblastoid	RTeQTL
rs2864873	HORMAD1	cis	Nerve Tibial	GTEx
rs2864873	RP11-316M1.12	cis	Whole Blood	GTEx
rs2864873	RNU6-1042P	cis	Esophagus Mucosa	GTEx
rs2864873	HORMAD1	cis	cerebellum	SCAN
rs2864873	CTSK	cis	parietal	SCAN
rs2864873	RP11-316M1.12	cis	Thyroid	GTEx
rs2864873	CTSK	cis	lymphoblastoid	seeQTL
rs2864873	PSMD4	cis	parietal	SCAN
rs2864873	HFE2	cis	parietal	SCAN
rs2864873	HORMAD1	cis	Esophagus Mucosa	GTEx
rs2864873	HORMAD1	cis	parietal	SCAN
rs2864873	CTSK	cis	cerebellum	SCAN
rs2864873	GOLPH3L	cis	Nerve Tibial	GTEx
rs2864873	RP11-316M1.12	cis	Adipose Subcutaneous	GTEx
rs2864873	RP11-316M1.12	cis	Skin Sun Exposed Lower leg	GTEx
rs2864873	CTSS	cis	Artery Tibial	GTEx
rs2864873	GNRHR2	cis	cerebellum	SCAN
rs2864873	HORMAD1	cis	Skin Sun Exposed Lower leg	GTEx
rs2864873	CTSS	cis	lymphoblastoid	seeQTL
rs2864873	GOLPH3L	cis	Skin Sun Exposed Lower leg	GTEx
rs2864873	RP11-316M1.12	cis	Artery Tibial	GTEx
rs2864873	CTSS	Cis_1M	lymphoblastoid	RTeQTL
rs2864873	ARNT	cis	parietal	SCAN
rs2864873	CTSS	cis	cerebellum	SCAN
rs2864873	CTSS	cis	parietal	SCAN
rs2864873	CTSS	cis	multi-tissue	Pritchard
rs2864873	RP11-316M1.12	cis	Nerve Tibial	GTEx
rs2864873	CTSS	cis	Thyroid	GTEx
rs2864873	RP11-316M1.12	cis	Artery Aorta	GTEx
rs2864873	RP11-316M1.12	cis	lung	GTEx
rs2864873	HORMAD1	cis	Adipose Subcutaneous	GTEx
rs2864873	RP11-316M1.12	cis	Esophagus Mucosa	GTEx
rs2864873	CTSK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150783200-150816600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:150783200-150816800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:150792200-150814800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:150792600-150815400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:150793000-150816400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:150793200-150823200	Strong transcription	Placenta	Placenta
7	chr1:150793600-150815800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:150797000-150814400	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:150797600-150815600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:150798200-150815600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:150799600-150816600	Strong transcription	HSMM	muscle
12	chr1:150799800-150817800	Strong transcription	Primary B cells from cord blood	blood
13	chr1:150801800-150814800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:150801800-150818600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:150801800-150824600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:150802800-150815200	Strong transcription	Fetal Lung	lung
17	chr1:150805800-150824600	Weak transcription	HMEC	breast
18	chr1:150807200-150814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:150807200-150820800	Weak transcription	Spleen	Spleen
20	chr1:150807400-150824600	Weak transcription	A549	lung
21	chr1:150807400-150847000	Weak transcription	Colonic Mucosa	Colon
22	chr1:150808000-150821600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:150808800-150847000	Weak transcription	Psoas Muscle	Psoas
24	chr1:150809000-150816400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:150809000-150819200	Weak transcription	K562	blood
26	chr1:150809000-150823000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:150809000-150824400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:150809000-150824600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:150809200-150814200	Weak transcription	Stomach Mucosa	stomach
30	chr1:150809200-150820600	Weak transcription	Brain Germinal Matrix	brain
31	chr1:150809200-150824600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:150809200-150846800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:150809400-150815000	Strong transcription	Liver	Liver
34	chr1:150809400-150821000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:150809400-150821000	Weak transcription	Thymus	Thymus
36	chr1:150809400-150823200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:150809600-150820400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:150809600-150846000	Weak transcription	Pancreas	Pancrea
39	chr1:150810000-150824800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:150810200-150824600	Weak transcription	NHLF	lung
41	chr1:150810400-150846600	Weak transcription	Fetal Heart	heart
42	chr1:150810600-150815000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:150811000-150814600	Strong transcription	Hela-S3	cervix
44	chr1:150811400-150815400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:150812000-150815400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr1:150812000-150815600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr1:150812000-150824400	Weak transcription	Fetal Brain Male	brain
48	chr1:150812000-150831200	Weak transcription	Lung	lung
49	chr1:150812000-150847000	Weak transcription	Gastric	stomach
50	chr1:150812200-150814400	Weak transcription	Fetal Intestine Large	intestine

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