Variant report

Variant	rs7562807
Chromosome Location	chr2:191073924-191073925
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:191072724-191074480	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191058213..191060210-chr2:191073885..191076482,2	K562	blood:
2	chr2:191072093..191074775-chr2:191077748..191080618,2	K562	blood:

Variant related genes	Relation type
HIBCH	TF binding region

Extended variants
information (count: 234 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:232)

rs_ID	r²[population]
rs10173593	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10183133	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188044	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10188870	0.86[CEU][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10191068	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10196013	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10196351	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10200496	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10209516	1.00[CEU][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10209984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1058180	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1058227	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1058230	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931448	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931450	0.95[CEU][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap]
rs1114863	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11216	0.95[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11542	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11683636	0.86[EUR][1000 genomes]
rs11683763	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11684995	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs11685119	0.85[EUR][1000 genomes]
rs11689666	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11692448	0.81[CEU][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs11695166	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11883568	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11888626	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11894667	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11894766	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1223	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13010589	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13011138	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13405019	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13415995	1.00[CEU][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13416673	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13429540	0.91[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1366672	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1583878	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16832420	0.81[CEU][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16832456	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16832512	0.82[EUR][1000 genomes]
rs176712	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1866849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1866850	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1882892	0.83[JPT][hapmap]
rs188339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs1972288	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1984626	0.87[JPT][hapmap]
rs2015744	0.87[JPT][hapmap]
rs2016037	0.90[CEU][hapmap];0.83[JPT][hapmap]
rs2067392	0.87[JPT][hapmap]
rs2067400	0.87[JPT][hapmap]
rs2067402	0.95[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.97[TSI][hapmap]
rs2067405	0.87[JPT][hapmap]
rs2067407	0.86[JPT][hapmap]
rs2067409	0.87[JPT][hapmap]
rs2067411	0.85[CEU][hapmap]
rs2067412	0.87[JPT][hapmap]
rs2067414	0.86[JPT][hapmap]
rs2067416	0.86[JPT][hapmap]
rs2067417	0.87[JPT][hapmap]
rs2067418	0.86[CEU][hapmap];0.90[TSI][hapmap]
rs2067419	0.86[CEU][hapmap];0.90[TSI][hapmap]
rs2067420	0.87[JPT][hapmap]
rs2099127	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs2099128	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2099129	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2136567	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2136568	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2136570	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2136571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2244075	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2244076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2256301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2271270	0.95[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2303827	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2353890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2582738	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582739	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582740	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2582744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2582745	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2582747	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2582749	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2582753	0.95[CEU][hapmap];0.82[GIH][hapmap];0.83[JPT][hapmap];0.97[TSI][hapmap]
rs2582757	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2582759	0.83[EUR][1000 genomes]
rs2582760	0.87[EUR][1000 genomes]
rs2582762	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582763	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582769	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582771	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582772	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582773	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664242	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664243	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2664244	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664246	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664247	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664249	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664255	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664256	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2664261	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2664264	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664266	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2664267	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2664269	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664272	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2664273	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2664274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2664275	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2664276	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2664277	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28887221	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291403	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291404	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291405	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291407	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291409	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs291410	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291411	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291412	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291413	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291414	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291415	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291419	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291420	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291421	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs291422	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291425	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291426	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291434	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291435	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291436	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291437	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291438	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291439	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291440	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291441	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291442	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291446	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291450	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs291451	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs291455	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs291456	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs291463	1.00[CEU][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2919675	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2941091	0.85[ASN][1000 genomes]
rs2941092	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2966470	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34760043	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35214387	0.85[EUR][1000 genomes]
rs3749015	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3749016	0.95[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3762548	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3791788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3791789	0.95[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3791790	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3791791	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3791792	0.85[EUR][1000 genomes]
rs3791800	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs3791805	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs3791806	0.81[CEU][hapmap]
rs3791815	0.95[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.97[TSI][hapmap]
rs3791816	0.87[JPT][hapmap]
rs3815961	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3828269	0.91[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4656	0.87[JPT][hapmap]
rs4853503	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4853684	0.81[CEU][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4853685	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4853687	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4853688	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4853689	0.81[CEU][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs4853694	0.87[JPT][hapmap]
rs55684836	0.86[EUR][1000 genomes]
rs55742982	0.85[EUR][1000 genomes]
rs55815425	0.85[EUR][1000 genomes]
rs56742312	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56853355	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57110838	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60068799	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61038868	0.85[EUR][1000 genomes]
rs6434381	0.87[EUR][1000 genomes]
rs6434382	0.83[EUR][1000 genomes]
rs6434383	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66738092	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66867328	0.87[EUR][1000 genomes]
rs6720060	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6721431	0.87[JPT][hapmap]
rs6723792	0.85[EUR][1000 genomes]
rs6737514	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6737846	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6749512	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6751238	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6751588	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6752703	0.81[CEU][hapmap]
rs6753459	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs713425	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs713426	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72625301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72625302	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72627903	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72627904	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72627905	0.82[EUR][1000 genomes]
rs7371399	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7371409	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7565423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7566380	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7569296	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7573689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574495	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580863	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7582209	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7583250	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7590942	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7597985	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7599085	0.82[EUR][1000 genomes]
rs7602400	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs760307	0.84[MEX][hapmap];0.82[TSI][hapmap]
rs972689	0.87[JPT][hapmap]
rs972690	0.87[JPT][hapmap]
rs972691	0.87[JPT][hapmap]

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	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv875619	chr2:191062951-191112241	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs7562807	HIBCH	cis	parietal	SCAN
rs7562807	INPP1	cis	parietal	SCAN
rs7562807	HIBCH	cis	multi-tissue	Pritchard
rs7562807	INPP1	cis	cerebellum	SCAN
rs7562807	HIBCH	cis	Thyroid	GTEx
rs7562807	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs7562807	INPP1	cis	lymphoblastoid	seeQTL
rs7562807	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs7562807	HIBCH	cis	lymphoblastoid	seeQTL
rs7562807	WDR75	cis	lymphoblastoid	seeQTL
rs7562807	MFSD6	cis	cerebellum	SCAN
rs7562807	HIBCH	cis	cerebellum	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191046000-191074000	Weak transcription	HMEC	breast
2	chr2:191046000-191088400	Weak transcription	HSMMtube	muscle
3	chr2:191046600-191086400	Weak transcription	Colonic Mucosa	Colon
4	chr2:191047000-191080400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:191047600-191081000	Weak transcription	Brain Anterior Caudate	brain
6	chr2:191052000-191108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:191053000-191078200	Weak transcription	Right Ventricle	heart
8	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:191056800-191131800	Weak transcription	NHEK	skin
10	chr2:191057000-191078400	Weak transcription	Thymus	Thymus
11	chr2:191057200-191076200	Weak transcription	Fetal Kidney	kidney
12	chr2:191057800-191087800	Weak transcription	Fetal Brain Female	brain
13	chr2:191058000-191076000	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:191060000-191107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:191060200-191078600	Weak transcription	NH-A	brain
16	chr2:191060200-191090600	Weak transcription	A549	lung
17	chr2:191060400-191076600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:191060600-191074000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:191060600-191078200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:191060600-191084000	Weak transcription	HUVEC	blood vessel
21	chr2:191060600-191087800	Weak transcription	Brain Germinal Matrix	brain
22	chr2:191060800-191079600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
24	chr2:191061000-191089200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:191062200-191079000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:191062400-191081600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:191062400-191081600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:191062400-191107800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:191062600-191074800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:191062600-191078600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:191062600-191081200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:191062800-191079800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:191062800-191081400	Weak transcription	Placenta	Placenta
34	chr2:191062800-191088000	Weak transcription	Fetal Brain Male	brain
35	chr2:191062800-191088600	Weak transcription	Spleen	Spleen
36	chr2:191063200-191078000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:191063200-191083400	Weak transcription	Lung	lung
38	chr2:191063400-191079800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:191064200-191074200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:191064600-191084400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:191064800-191078200	Weak transcription	Ovary	ovary
42	chr2:191064800-191078400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:191065000-191075200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr2:191065000-191075800	Weak transcription	Fetal Lung	lung
45	chr2:191065000-191076600	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:191065000-191076600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:191065000-191078400	Weak transcription	Left Ventricle	heart
48	chr2:191065000-191081400	Weak transcription	Pancreas	Pancrea
49	chr2:191065000-191084400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:191065000-191086600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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