Variant report

Variant	rs12116574
Chromosome Location	chr1:63037837-63037838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:63037750..63039379-chr1:63070695..63073673,2	K562	blood:

Variant related genes	Relation type
ENSG00000269624	Chromatin interaction

Extended variants
information (count: 225 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:223)

rs_ID	r²[population]
rs1002687	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs1007205	0.95[CEU][hapmap]
rs10157265	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10158897	0.95[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10159255	0.94[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10789112	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10789113	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10789117	0.95[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10789118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10789119	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];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10789120	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10889330	0.85[EUR][1000 genomes]
rs10889331	0.85[EUR][1000 genomes]
rs10889332	0.95[CEU][hapmap];0.80[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs10889333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10889335	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10889337	0.95[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10889338	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889339	0.91[EUR][1000 genomes]
rs10889340	0.91[EUR][1000 genomes]
rs10889342	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10889343	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10889344	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10889347	0.95[CEU][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10889348	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889349	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs10889350	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10889352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10889353	0.94[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];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889354	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889356	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10889357	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10889360	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11207969	0.95[CEU][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs11207970	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207972	0.85[EUR][1000 genomes]
rs11207974	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs11207976	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11207977	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11207979	0.91[EUR][1000 genomes]
rs11207980	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11207981	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11207982	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11207983	0.91[EUR][1000 genomes]
rs11207984	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11207985	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11207986	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11207990	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11207992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207994	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11207995	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207996	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207997	0.83[CEU][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11207998	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11207999	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11208000	0.90[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11208001	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11208004	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11208007	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11485618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11577840	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs11588261	0.87[EUR][1000 genomes]
rs1167996	0.90[EUR][1000 genomes]
rs1167998	0.95[CEU][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs1168001	0.85[EUR][1000 genomes]
rs1168002	0.85[EUR][1000 genomes]
rs1168003	0.85[EUR][1000 genomes]
rs1168009	0.91[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs1168010	0.91[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs1168013	0.95[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1168015	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1168017	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1168018	0.95[CEU][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1168020	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1168021	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1168022	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs1168023	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs1168026	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs1168027	0.91[EUR][1000 genomes]
rs1168028	0.86[EUR][1000 genomes]
rs1168029	0.85[EUR][1000 genomes]
rs1168030	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs1168031	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs1168032	0.95[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs1168034	0.86[EUR][1000 genomes]
rs1168036	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1168040	0.91[CEU][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs1168041	0.82[CHD][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap]
rs1168042	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs1168044	0.91[EUR][1000 genomes]
rs1168045	0.95[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs1168046	0.91[EUR][1000 genomes]
rs1168047	0.91[EUR][1000 genomes]
rs1168050	0.91[EUR][1000 genomes]
rs1168085	0.95[EUR][1000 genomes]
rs1168086	0.95[CEU][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1168089	0.95[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1168093	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1168097	0.95[EUR][1000 genomes]
rs1168098	0.95[EUR][1000 genomes]
rs1168099	0.95[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs1168102	0.95[EUR][1000 genomes]
rs1168103	0.95[EUR][1000 genomes]
rs1168107	0.81[EUR][1000 genomes]
rs1168113	0.91[CEU][hapmap];0.90[CHD][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs1168114	0.91[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs1168124	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs1168128	0.86[EUR][1000 genomes]
rs1168132	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs1177541	0.83[EUR][1000 genomes]
rs1179765	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1183260	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs1184547	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1184865	0.95[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs12023489	0.89[EUR][1000 genomes]
rs12025714	0.91[ASN][1000 genomes]
rs12025800	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12029068	0.89[EUR][1000 genomes]
rs12030293	0.91[ASN][1000 genomes]
rs12037659	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12038768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039115	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12042319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12047226	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12048208	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12062275	0.91[EUR][1000 genomes]
rs12074528	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12090886	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12124284	0.88[ASN][1000 genomes]
rs12136083	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12239736	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12239737	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12403207	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1305520	0.85[EUR][1000 genomes]
rs1305521	0.90[EUR][1000 genomes]
rs1472257	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1570694	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1627591	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs1629122	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1690755	0.85[EUR][1000 genomes]
rs1690761	0.90[EUR][1000 genomes]
rs1690766	0.91[EUR][1000 genomes]
rs1748195	0.95[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1748197	0.95[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1748199	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1748200	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1748201	0.95[CEU][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1781195	0.95[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs1781212	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs1781221	0.95[CEU][hapmap]
rs1979722	0.95[CEU][hapmap];0.80[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[LWK][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2029763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2131925	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2131926	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2366636	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2366638	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2479464	0.93[EUR][1000 genomes]
rs2489835	0.86[EUR][1000 genomes]
rs28399032	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34152715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850634	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];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3913007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4329540	0.95[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4344355	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4350231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4459145	0.85[EUR][1000 genomes]
rs4495740	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4587594	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4915838	0.87[EUR][1000 genomes]
rs4915840	0.91[EUR][1000 genomes]
rs56115463	0.88[ASN][1000 genomes]
rs583609	0.95[CEU][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs597076	0.90[EUR][1000 genomes]
rs597078	0.90[EUR][1000 genomes]
rs597470	0.90[EUR][1000 genomes]
rs598253	0.90[EUR][1000 genomes]
rs61471917	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61775910	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs624660	0.90[EUR][1000 genomes]
rs626787	0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs630144	0.89[EUR][1000 genomes]
rs631106	0.91[CEU][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs634341	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs636497	0.90[EUR][1000 genomes]
rs636523	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs637723	0.91[CEU][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs638305	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs641540	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs642845	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs656297	0.95[CEU][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs6587976	0.90[EUR][1000 genomes]
rs6587980	0.95[CEU][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs659656	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6657050	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6675401	0.95[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6678483	0.95[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6682423	0.91[CEU][hapmap];0.90[CHD][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap]
rs6690733	0.95[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6693353	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6696502	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs746735	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7518497	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7519785	0.98[EUR][1000 genomes]
rs7520810	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7527004	0.84[EUR][1000 genomes]
rs7531579	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7534572	0.91[EUR][1000 genomes]
rs7539035	0.95[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7547965	0.82[EUR][1000 genomes]
rs7548877	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7555577	0.86[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs783291	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs880694	0.91[CEU][hapmap];0.90[CHD][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap]
rs9436221	0.83[EUR][1000 genomes]
rs9436222	0.83[EUR][1000 genomes]
rs9436223	0.89[EUR][1000 genomes]
rs9436661	0.89[EUR][1000 genomes]
rs993013	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs995000	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];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs998403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9988450	0.88[EUR][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	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12116574	DOCK7	cis	lymphoblastoid	seeQTL
rs12116574	DOCK7	Cis_1M	lymphoblastoid	RTeQTL
rs12116574	RAB11FIP2	trans	parietal	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62939600-63040600	Weak transcription	Aorta	Aorta
2	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
4	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
5	chr1:62957800-63050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:62958200-63061000	Weak transcription	Lung	lung
7	chr1:62994000-63051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:63000200-63054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:63003200-63045200	Weak transcription	Gastric	stomach
10	chr1:63005600-63050200	Weak transcription	NHLF	lung
11	chr1:63007200-63056200	Weak transcription	Brain Anterior Caudate	brain
12	chr1:63007200-63096200	Weak transcription	HUVEC	blood vessel
13	chr1:63007600-63040400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:63007800-63040600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:63008400-63038000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:63008400-63053200	Weak transcription	Osteobl	bone
17	chr1:63010800-63078400	Weak transcription	A549	lung
18	chr1:63017800-63057600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:63018000-63051200	Weak transcription	Colonic Mucosa	Colon
20	chr1:63019800-63052400	Weak transcription	HMEC	breast
21	chr1:63021600-63058800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:63021600-63061400	Weak transcription	Pancreas	Pancrea
23	chr1:63021800-63038000	Weak transcription	Dnd41	blood
24	chr1:63021800-63038600	Weak transcription	NHDF-Ad	bronchial
25	chr1:63024400-63053200	Weak transcription	NH-A	brain
26	chr1:63025000-63043600	Weak transcription	Thymus	Thymus
27	chr1:63025800-63038200	Weak transcription	Psoas Muscle	Psoas
28	chr1:63026400-63052200	Weak transcription	Primary B cells from cord blood	blood
29	chr1:63026400-63053400	Weak transcription	Primary T cells from cord blood	blood
30	chr1:63026800-63050200	Weak transcription	HSMMtube	muscle
31	chr1:63027000-63039000	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:63027000-63040800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:63027000-63051400	Weak transcription	Placenta	Placenta
34	chr1:63027200-63039800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:63027200-63050400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:63027400-63038000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:63028800-63052800	Weak transcription	Esophagus	oesophagus
38	chr1:63029000-63038000	Weak transcription	Fetal Intestine Small	intestine
39	chr1:63029000-63040400	Weak transcription	Fetal Stomach	stomach
40	chr1:63034200-63038000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr1:63034200-63051000	Weak transcription	HepG2	liver
42	chr1:63034600-63040600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:63035200-63050000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:63035200-63053600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:63036200-63038400	ZNF genes & repeats	Fetal Kidney	kidney
46	chr1:63036600-63045200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:63036800-63043000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:63036800-63045400	Weak transcription	Right Ventricle	heart
49	chr1:63036800-63058600	Weak transcription	Fetal Brain Female	brain
50	chr1:63036800-63113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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Variant report

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