Variant report

Variant	rs11180548
Chromosome Location	chr12:75880006-75880007
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:75879283..75886841-chr12:75892353..75898321,9	K562	blood:

Variant related genes	Relation type
ENSG00000111615	Chromatin interaction

Extended variants
information (count: 189 )
Associated
traits (count: 33 )

rSNPs within LD-proxies of this variant (count:183)

rs_ID	r²[population]
rs10506668	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1051446	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10785187	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs10785189	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10785190	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10879905	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs10879906	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10879907	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10879913	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10879916	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10879918	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10879919	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10879922	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10879923	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180455	0.81[MEX][hapmap]
rs11180456	0.81[JPT][hapmap]
rs11180460	0.95[MEX][hapmap]
rs11180465	0.91[MEX][hapmap];0.90[TSI][hapmap]
rs11180470	0.81[MEX][hapmap];0.90[TSI][hapmap]
rs11180473	0.81[JPT][hapmap]
rs11180483	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs11180484	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11180488	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11180489	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11180492	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11180495	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180496	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180497	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11180498	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180508	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11180509	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11180510	0.82[CHB][hapmap];0.80[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11180511	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11180512	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11180513	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11180514	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11180522	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11180524	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180526	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180527	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11180528	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180533	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180535	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180536	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180537	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11180538	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180540	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180541	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11180546	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11180547	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11829208	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11829233	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11831200	0.95[MEX][hapmap]
rs11831340	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11833819	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11837697	0.95[MEX][hapmap]
rs12099961	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12146845	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12146849	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12366348	0.82[JPT][hapmap]
rs12369556	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs12371293	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs12372516	0.82[JPT][hapmap]
rs12422952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12579143	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12579161	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12581394	0.91[MEX][hapmap];0.90[TSI][hapmap]
rs12581416	0.86[MEX][hapmap]
rs12581663	0.87[EUR][1000 genomes]
rs12581937	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12582825	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1543946	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17114962	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17114964	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17115087	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17115098	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1875470	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1875471	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1909968	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1909969	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1909970	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1909971	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1909972	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1909973	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1909979	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2102135	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2134141	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2202104	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2242435	0.89[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2292009	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2292010	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3087687	0.86[MEX][hapmap]
rs3741496	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3759089	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759090	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3858535	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3923914	0.83[EUR][1000 genomes]
rs4019363	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4019366	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4019368	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4019400	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4255573	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4394867	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4409878	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4415811	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4533075	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4565939	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4565940	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4583012	0.85[EUR][1000 genomes]
rs4587767	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4623941	0.82[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs4882618	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs4882619	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4882620	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4882624	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4882625	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4882628	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4882629	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4882687	1.00[MEX][hapmap];0.88[TSI][hapmap]
rs4882689	0.82[JPT][hapmap]
rs56829278	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57613088	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58018505	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59282813	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59516478	0.81[EUR][1000 genomes]
rs6582289	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67705855	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67904412	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7133490	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7134260	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7135164	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135208	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7135440	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7135971	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7136080	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7136556	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7137981	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7296131	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7297994	0.84[TSI][hapmap]
rs7298343	0.85[MEX][hapmap]
rs7298541	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7299877	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7300071	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7300296	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7300345	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7305433	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7306050	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7307352	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7311260	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7311359	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7315091	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73191008	0.82[EUR][1000 genomes]
rs73354209	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73365996	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7486473	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7488050	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7954633	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7954879	0.90[MEX][hapmap]
rs7957713	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7958067	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7963723	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7963834	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7963977	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7964070	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7964900	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7965228	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7966268	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7966341	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7966763	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7967014	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7967699	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7967731	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7969930	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7970458	0.85[EUR][1000 genomes]
rs7972809	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7973388	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7973632	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7974011	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975447	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7975661	1.00[MEX][hapmap];0.88[TSI][hapmap]
rs7978312	0.95[MEX][hapmap];0.90[TSI][hapmap]
rs7978856	0.85[EUR][1000 genomes]
rs9668552	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:33)

SNP	Gene	Cis/trans	Tissue	Source
rs11180548	GLIPR1L2	cis	Stomach	GTEx
rs11180548	RP11-585P4.5	cis	Esophagus Mucosa	GTEx
rs11180548	GLIPR1L1	cis	lymphoblastoid	seeQTL
rs11180548	GLIPR1L2	cis	Esophagus Mucosa	GTEx
rs11180548	GLIPR1L2	cis	Skin Sun Exposed Lower leg	GTEx
rs11180548	RAET1G	trans	cerebellum	SCAN
rs11180548	RP11-585P4.5	cis	Muscle Skeletal	GTEx
rs11180548	GLIPR1L2	cis	Thyroid	GTEx
rs11180548	GLIPR1L2	cis	Artery Tibial	GTEx
rs11180548	GLIPR1L2	cis	cerebellum	SCAN
rs11180548	GLIPR1L2	cis	Nerve Tibial	GTEx
rs11180548	RP11-585P4.5	cis	Thyroid	GTEx
rs11180548	GLIPR1L2	cis	Artery Aorta	GTEx
rs11180548	RP11-585P4.5	cis	Skin Sun Exposed Lower leg	GTEx
rs11180548	RP11-585P4.5	cis	Artery Tibial	GTEx
rs11180548	GLIPR1	cis	cerebellum	SCAN
rs11180548	GLIPR1L2	cis	parietal	SCAN
rs11180548	CAPS2	cis	cerebellum	SCAN
rs11180548	GLIPR1L2	cis	lung	GTEx
rs11180548	KRR1	cis	parietal	SCAN
rs11180548	GLIPR1L2	cis	Adipose Subcutaneous	GTEx
rs11180548	GLIPR1	cis	normal skin	skin_eQTL
rs11180548	KRR1	cis	cerebellum	SCAN
rs11180548	RP11-585P4.5	cis	Nerve Tibial	GTEx
rs11180548	GLIPR1L2	cis	Muscle Skeletal	GTEx
rs11180548	RP11-585P4.5	cis	Adipose Subcutaneous	GTEx
rs11180548	GLIPR1L1	cis	multi-tissue	Pritchard
rs11180548	KRR1	cis	multi-tissue	Pritchard
rs11180548	GLIPR1	cis	parietal	SCAN
rs11180548	GLIPR1L2	cis	Heart Left Ventricle	GTEx
rs11180548	GLIPR1L2	cis	Esophagus Muscularis	GTEx
rs11180548	RP11-585P4.5	cis	Stomach	GTEx
rs11180548	RP11-585P4.5	cis	Esophagus Muscularis	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75874800-75895000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:75875400-75887800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:75875600-75880600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:75875600-75882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:75875600-75890200	Weak transcription	Brain Substantia Nigra	brain
6	chr12:75875600-75903400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:75875800-75882800	Weak transcription	NHEK	skin
8	chr12:75875800-75883600	Weak transcription	Esophagus	oesophagus
9	chr12:75875800-75886600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:75875800-75886800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:75875800-75888800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:75875800-75892400	Weak transcription	K562	blood
13	chr12:75875800-75892600	Weak transcription	Brain Angular Gyrus	brain
14	chr12:75875800-75894400	Weak transcription	Colonic Mucosa	Colon
15	chr12:75875800-75903000	Weak transcription	Small Intestine	intestine
16	chr12:75875800-75903600	Weak transcription	Fetal Intestine Small	intestine
17	chr12:75876000-75880600	Transcr. at gene 5' and 3'	Osteobl	bone
18	chr12:75876200-75885000	Weak transcription	Liver	Liver
19	chr12:75876200-75903400	Weak transcription	Fetal Stomach	stomach
20	chr12:75876400-75881200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:75876400-75883600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:75876400-75886800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:75876400-75889800	Weak transcription	Lung	lung
24	chr12:75876400-75891400	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:75876400-75894400	Weak transcription	Ovary	ovary
26	chr12:75876600-75883200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:75876800-75889800	Weak transcription	Left Ventricle	heart
28	chr12:75876800-75889800	Weak transcription	Thymus	Thymus
29	chr12:75876800-75890400	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:75876800-75895000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:75877400-75880400	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr12:75877400-75880600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
33	chr12:75877600-75880600	Strong transcription	HSMM	muscle
34	chr12:75877600-75880800	Enhancers	Colon Smooth Muscle	Colon
35	chr12:75877600-75886600	Weak transcription	Fetal Thymus	thymus
36	chr12:75877600-75889000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:75877800-75883200	Weak transcription	HSMMtube	muscle
38	chr12:75877800-75889000	Weak transcription	Adipose Nuclei	Adipose
39	chr12:75877800-75889200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:75877800-75890200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:75878200-75881400	Weak transcription	Aorta	Aorta
42	chr12:75878200-75883000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:75878400-75880600	Enhancers	Rectal Smooth Muscle	rectum
44	chr12:75878400-75882800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:75878400-75887200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:75878400-75890600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr12:75878600-75883200	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:75878800-75881600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:75879000-75880400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:75879000-75880400	Enhancers	NHDF-Ad	bronchial

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