Variant report

Variant	rs810334
Chromosome Location	chr3:47935303-47935304
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47930805..47933794-chr3:47935046..47936999,2	K562	blood:
2	chr3:47919145..47920888-chr3:47933987..47935579,2	K562	blood:
3	chr3:47935127..47936630-chr3:47951043..47952545,2	K562	blood:

Variant related genes	Relation type
ENSG00000047849	Chromatin interaction

Extended variants
information (count: 154 )
Associated
traits (count: 17 )

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];1.00[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]
rs777015	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]
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]
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:10 , 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

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs810334	SMARCC1	cis	cerebellum	SCAN
rs810334	ATRIP	cis	cerebellum	SCAN
rs810334	MRPS18AP1	cis	Nerve Tibial	GTEx
rs810334	MRPS18AP1	cis	lung	GTEx
rs810334	ZNF589	cis	Nerve Tibial	GTEx
rs810334	HYAL2	cis	cerebellum	SCAN
rs810334	ZNF589	cis	cerebellum	SCAN
rs810334	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs810334	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs810334	ALS2CL	cis	parietal	SCAN
rs810334	ZNF445	cis	cerebellum	SCAN
rs810334	ZNF589	cis	parietal	SCAN
rs810334	GNAI2	cis	parietal	SCAN
rs810334	CDC25A	cis	cerebellum	SCAN
rs810334	ZNF589	cis	Artery Tibial	GTEx
rs810334	MRPS18AP1	cis	Artery Tibial	GTEx
rs810334	MAP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 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	chr3:47919800-47937000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:47922000-47951400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:47926800-47953400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:47926800-47957400	Weak transcription	Colonic Mucosa	Colon
10	chr3:47927000-47936800	Weak transcription	GM12878-XiMat	blood
11	chr3:47930000-47940000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:47930200-47937000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:47930200-47941600	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr3:47931000-47935800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:47931600-47935600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:47931800-47935800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:47932000-47937200	Strong transcription	Osteobl	bone
18	chr3:47932000-47969200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:47932200-47935600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:47932200-47935800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:47932200-47935800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:47932200-47937600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:47932400-47935600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:47932400-47937200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr3:47932400-47941600	Strong transcription	HSMMtube	muscle
26	chr3:47932400-47941800	Strong transcription	NH-A	brain
27	chr3:47932600-47935600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:47932600-47935800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:47932800-47937400	Strong transcription	HSMM	muscle
30	chr3:47933000-47935400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:47933000-47935600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:47933000-47942800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:47933200-47935600	Strong transcription	K562	blood
34	chr3:47933200-47936200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:47933200-47943800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:47933200-47953200	Weak transcription	Fetal Kidney	kidney
37	chr3:47933400-47935600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:47933400-47936000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:47933400-47937800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:47933600-47936600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:47933600-47937800	Strong transcription	Placenta	Placenta
42	chr3:47933800-47935600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:47933800-47935600	Strong transcription	Adipose Nuclei	Adipose
44	chr3:47933800-47935800	Strong transcription	NHDF-Ad	bronchial
45	chr3:47933800-47937400	Strong transcription	Fetal Lung	lung
46	chr3:47933800-47937400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr3:47933800-47939000	Weak transcription	Fetal Thymus	thymus
48	chr3:47933800-47939000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr3:47933800-47942800	Weak transcription	Aorta	Aorta
50	chr3:47933800-47948400	Weak transcription	Primary B cells from peripheral blood	blood

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