Variant report

Variant	rs777015
Chromosome Location	chr3:47937072-47937073
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	chr3:47917882..47919572-chr3:47936119..47938317,2	K562	blood:

Variant related genes	Relation type
ENSG00000047849	Chromatin interaction

Extended variants
information (count: 156 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs1013431	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1060407	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1061003	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11130148	0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap]
rs11130150	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11130152	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11130154	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1137524	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707679	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11710199	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11712464	0.89[CEU][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap]
rs12495204	0.94[ASW][hapmap];0.85[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs13072132	0.81[CEU][hapmap]
rs13074973	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13075457	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13075795	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13077230	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13079407	0.91[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs13081701	0.86[EUR][1000 genomes]
rs13085054	0.94[ASW][hapmap];0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap]
rs13086149	0.81[AFR][1000 genomes]
rs13091913	0.88[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs13093830	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13094264	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap]
rs1486915	0.88[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap]
rs1530646	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1550914	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1665982	0.82[EUR][1000 genomes]
rs1684942	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17079785	0.88[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs17290490	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs184388	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2047559	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs2053767	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2101398	0.81[AFR][1000 genomes]
rs2121754	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2166770	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2166772	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2351248	1.00[JPT][hapmap];0.97[TSI][hapmap]
rs2631721	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28637561	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2882668	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs319680	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs319681	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs319682	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];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs319684	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319685	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319686	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319687	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs319688	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs319689	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319690	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs319691	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs319692	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs319693	0.89[CEU][hapmap];0.88[JPT][hapmap];0.97[TSI][hapmap];0.80[ASN][1000 genomes]
rs319694	0.94[ASW][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs319695	0.83[CHB][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs319696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34025851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34249203	0.80[ASN][1000 genomes]
rs34448818	0.81[CEU][hapmap]
rs34569417	0.81[AFR][1000 genomes]
rs34750113	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34906469	0.80[AFR][1000 genomes]
rs35199727	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35314534	0.89[EUR][1000 genomes]
rs35582375	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35689209	0.84[EUR][1000 genomes]
rs35698005	0.87[AFR][1000 genomes]
rs35943823	0.82[EUR][1000 genomes]
rs3732529	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772399	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3888	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.85[ASN][1000 genomes]
rs3915654	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4293721	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4296617	0.89[EUR][1000 genomes]
rs4392441	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4599334	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4858810	0.92[CEU][hapmap]
rs4858851	0.89[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap]
rs4858860	0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.85[ASN][1000 genomes]
rs4858863	0.89[CEU][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap]
rs4858871	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858876	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4858880	0.83[EUR][1000 genomes]
rs4858881	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs4858887	0.87[EUR][1000 genomes]
rs5012971	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60446735	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61181421	0.87[AFR][1000 genomes]
rs62260764	0.82[EUR][1000 genomes]
rs62263575	0.83[ASN][1000 genomes]
rs6442082	0.94[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs6442090	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6442091	0.89[EUR][1000 genomes]
rs6442094	0.82[EUR][1000 genomes]
rs6442096	0.83[EUR][1000 genomes]
rs6442101	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs6763824	0.83[ASW][hapmap];0.88[CEU][hapmap]
rs6768699	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs6770467	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6770477	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6772396	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773208	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6776963	0.84[CEU][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap]
rs6777632	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6783629	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6785669	0.92[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap]
rs6786001	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs6791834	0.85[EUR][1000 genomes]
rs6803741	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs6806820	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6806860	0.88[ASW][hapmap];0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap]
rs72906488	0.84[AFR][1000 genomes]
rs7374516	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7426976	0.89[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7427418	1.00[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7429990	0.82[EUR][1000 genomes]
rs7430879	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7430913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7618758	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.85[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap]
rs7619882	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7620736	0.85[EUR][1000 genomes]
rs7627645	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7629850	0.89[CEU][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap]
rs7638103	0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap]
rs7642590	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs7645846	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7649981	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7653368	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs777014	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs777017	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs796566	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800762	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs810334	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9681917	0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap]
rs9811277	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9812875	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9814961	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9842649	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9846062	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9854454	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9860485	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9862913	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006560	chr3:47867461-48037031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv1011662	chr3:47891634-48019462	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv536561	chr3:47891634-48019462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv1796001	chr3:47912703-48012797	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1826403	chr3:47912703-48012797	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1000817	chr3:47927730-48032401	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
12	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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 miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs777015	CDC25A	cis	cerebellum	SCAN
rs777015	SMARCC1	cis	cerebellum	SCAN
rs777015	MRPS18AP1	cis	Nerve Tibial	GTEx
rs777015	ZNF445	cis	cerebellum	SCAN
rs777015	MRPS18AP1	cis	Artery Tibial	GTEx
rs777015	ZNF589	cis	cerebellum	SCAN
rs777015	ZNF589	cis	Nerve Tibial	GTEx
rs777015	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs777015	ATRIP	cis	cerebellum	SCAN
rs777015	ALS2CL	cis	parietal	SCAN
rs777015	ZNF589	cis	multi-tissue	Pritchard
rs777015	ZNF589	cis	Lymphoblastoid	GTEx
rs777015	GNAI2	cis	parietal	SCAN
rs777015	HYAL2	cis	cerebellum	SCAN
rs777015	ZNF589	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47910200-47957000	Weak transcription	Small Intestine	intestine
2	chr3:47910200-47978000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:47912600-47939200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr3:47915000-47939000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr3:47917600-47957400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:47922000-47951400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:47926800-47953400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:47926800-47957400	Weak transcription	Colonic Mucosa	Colon
9	chr3:47930000-47940000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:47930200-47941600	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr3:47932000-47937200	Strong transcription	Osteobl	bone
12	chr3:47932000-47969200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:47932200-47937600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:47932400-47937200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:47932400-47941600	Strong transcription	HSMMtube	muscle
16	chr3:47932400-47941800	Strong transcription	NH-A	brain
17	chr3:47932800-47937400	Strong transcription	HSMM	muscle
18	chr3:47933000-47942800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:47933200-47943800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:47933200-47953200	Weak transcription	Fetal Kidney	kidney
21	chr3:47933400-47937800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:47933600-47937800	Strong transcription	Placenta	Placenta
23	chr3:47933800-47937400	Strong transcription	Fetal Lung	lung
24	chr3:47933800-47937400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr3:47933800-47939000	Weak transcription	Fetal Thymus	thymus
26	chr3:47933800-47939000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr3:47933800-47942800	Weak transcription	Aorta	Aorta
28	chr3:47933800-47948400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr3:47933800-47952200	Weak transcription	Psoas Muscle	Psoas
30	chr3:47933800-47953000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr3:47934000-47938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:47934000-47940800	Weak transcription	Pancreas	Pancrea
33	chr3:47934000-47941000	Weak transcription	Stomach Mucosa	stomach
34	chr3:47934000-47941200	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:47934000-47941200	Weak transcription	HMEC	breast
36	chr3:47934000-47941800	Strong transcription	Fetal Muscle Leg	muscle
37	chr3:47934000-47946600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr3:47934000-47952400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:47934000-47952400	Weak transcription	Spleen	Spleen
40	chr3:47934000-47952800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr3:47934200-47941000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr3:47934200-47943000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:47934200-47950400	Weak transcription	HUVEC	blood vessel
44	chr3:47934200-47951000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr3:47934200-47952000	Weak transcription	Ovary	ovary
46	chr3:47934200-47952400	Weak transcription	Esophagus	oesophagus
47	chr3:47934200-47952600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:47934200-47953400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:47934200-47957200	Weak transcription	Gastric	stomach
50	chr3:47934400-47937200	Weak transcription	Brain Substantia Nigra	brain

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