Variant report

Variant	rs319686
Chromosome Location	chr3:47930420-47930421
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs1013431	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];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	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11130148	0.89[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.81[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap]
rs11130150	0.92[ASN][1000 genomes]
rs11130152	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11130154	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1137524	0.89[AFR][1000 genomes];0.98[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	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11712464	0.89[CEU][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap]
rs12495204	0.84[ASW][hapmap];0.85[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap]
rs12635438	0.89[CEU][hapmap];0.94[JPT][hapmap];0.92[TSI][hapmap]
rs13072132	0.81[CEU][hapmap]
rs13074973	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13075457	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13075795	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13077230	0.92[ASN][1000 genomes]
rs13079407	0.91[CEU][hapmap]
rs13081701	0.86[EUR][1000 genomes]
rs13091913	0.89[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap]
rs13093830	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13094264	0.89[ASW][hapmap];0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.81[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap]
rs1486915	0.89[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.81[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap]
rs1530646	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1550914	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];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];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17079785	0.89[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap]
rs17290490	0.84[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs184388	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2047559	0.89[CEU][hapmap]
rs2053767	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2121754	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2133601	0.82[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.84[TSI][hapmap]
rs2166770	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2166772	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2351248	1.00[JPT][hapmap];0.97[TSI][hapmap]
rs2631721	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28637561	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2882668	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs319680	0.82[EUR][1000 genomes]
rs319681	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs319682	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs319684	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319685	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319687	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs319688	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs319689	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319690	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs319691	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs319692	0.86[AFR][1000 genomes];1.00[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	0.84[ASW][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.81[AFR][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]
rs34750113	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35199727	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35314534	0.89[EUR][1000 genomes]
rs35582375	0.92[ASN][1000 genomes]
rs35689209	0.84[EUR][1000 genomes]
rs35943823	0.82[EUR][1000 genomes]
rs3732529	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772399	0.84[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.85[ASN][1000 genomes]
rs3888	0.89[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.85[ASN][1000 genomes]
rs3915654	0.84[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.85[ASN][1000 genomes]
rs4293721	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[ASW][hapmap];0.89[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.81[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap]
rs4858860	0.89[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.81[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.85[ASN][1000 genomes]
rs4858863	0.89[CEU][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap]
rs4858871	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858876	0.85[AFR][1000 genomes];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	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60446735	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62260764	0.82[EUR][1000 genomes]
rs62263575	0.83[ASN][1000 genomes]
rs6442082	0.84[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap]
rs6442090	0.81[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	0.83[EUR][1000 genomes]
rs6763824	0.83[ASW][hapmap];0.88[CEU][hapmap];0.81[LWK][hapmap];0.83[YRI][hapmap]
rs6768699	0.84[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap]
rs6770467	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6770477	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6772396	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773208	0.83[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]
rs6783629	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6785669	0.89[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.81[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap]
rs6786001	0.84[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap]
rs6791834	0.85[EUR][1000 genomes]
rs6792497	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
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	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6806860	0.89[ASW][hapmap];0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[TSI][hapmap]
rs7374516	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7426976	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7427418	0.89[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.83[LWK][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7429990	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7430879	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7430913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7618758	0.84[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap]
rs7619882	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7620736	0.85[EUR][1000 genomes]
rs7627645	0.87[EUR][1000 genomes]
rs7629850	0.89[CEU][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap]
rs7638103	0.89[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.81[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][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]
rs7649981	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7653368	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs777014	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs777015	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.98[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];0.80[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800762	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs810334	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9681917	0.89[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.81[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap]
rs9811277	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9812875	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9814961	0.81[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	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9854454	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9860485	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9862913	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.83[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:14)

SNP	Gene	Cis/trans	Tissue	Source
rs319686	ZNF445	cis	cerebellum	SCAN
rs319686	SMARCC1	cis	cerebellum	SCAN
rs319686	ALS2CL	cis	parietal	SCAN
rs319686	ATRIP	cis	cerebellum	SCAN
rs319686	GNAI2	cis	parietal	SCAN
rs319686	HYAL2	cis	cerebellum	SCAN
rs319686	ZNF589	cis	Lymphoblastoid	GTEx
rs319686	MRPS18AP1	cis	Nerve Tibial	GTEx
rs319686	ZNF589	cis	Nerve Tibial	GTEx
rs319686	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs319686	CDC25A	cis	cerebellum	SCAN
rs319686	ZNF589	cis	multi-tissue	Pritchard
rs319686	ZNF589	cis	cerebellum	SCAN
rs319686	ZNF589	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47870800-47931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:47907200-47931600	Weak transcription	Psoas Muscle	Psoas
3	chr3:47910200-47957000	Weak transcription	Small Intestine	intestine
4	chr3:47910200-47978000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:47912600-47939200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:47913600-47932200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:47913600-47932200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:47913600-47932600	Weak transcription	Stomach Mucosa	stomach
9	chr3:47915000-47932000	Weak transcription	Ovary	ovary
10	chr3:47915000-47932600	Weak transcription	Aorta	Aorta
11	chr3:47915000-47939000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr3:47916800-47931800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:47917200-47930800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:47917200-47931800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:47917200-47932200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:47917200-47932200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:47917400-47931600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:47917400-47931800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr3:47917400-47932200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:47917400-47932200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:47917400-47932200	Weak transcription	NHDF-Ad	bronchial
22	chr3:47917400-47932800	Weak transcription	Gastric	stomach
23	chr3:47917600-47930800	Weak transcription	Hela-S3	cervix
24	chr3:47917600-47932600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr3:47917600-47957400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:47918200-47932400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:47918600-47932200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:47918600-47932800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr3:47919200-47931600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:47919600-47930600	Weak transcription	Right Atrium	heart
31	chr3:47919600-47931000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:47919600-47932200	Weak transcription	Placenta	Placenta
33	chr3:47919600-47932200	Weak transcription	Spleen	Spleen
34	chr3:47919600-47932400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr3:47919600-47932400	Weak transcription	Dnd41	blood
36	chr3:47919600-47932400	Weak transcription	NH-A	brain
37	chr3:47919600-47933200	Weak transcription	K562	blood
38	chr3:47919800-47937000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:47921800-47931600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:47922000-47932200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:47922000-47951400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:47922800-47931000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:47925800-47931400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:47925800-47931600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:47926000-47932800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:47926000-47935000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:47926400-47932600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:47926600-47930600	Weak transcription	Primary B cells from cord blood	blood
49	chr3:47926600-47930600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:47926600-47930600	Weak transcription	Right Ventricle	heart

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