Variant report

Variant	rs6770467
Chromosome Location	chr3:48019232-48019233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs1013431	0.89[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10446426	0.81[ASN][1000 genomes]
rs1060407	0.92[CEU][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs1061003	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130150	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11130152	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11130154	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11130155	0.87[CEU][hapmap];0.93[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1137524	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11707679	0.92[CEU][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs11710199	0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11710866	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11711129	0.85[EUR][1000 genomes]
rs11714518	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11720151	0.92[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11924107	0.83[EUR][1000 genomes]
rs12486714	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12493348	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13074973	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13075457	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13075795	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13077230	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13079407	0.86[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs13080997	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13081463	0.85[EUR][1000 genomes]
rs13081701	0.80[EUR][1000 genomes]
rs13085054	0.94[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap]
rs13093830	0.89[EUR][1000 genomes]
rs1486915	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs1530646	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1550914	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1684942	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17290490	0.94[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs184388	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2053767	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2121754	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166770	0.89[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2166772	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2351248	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs2361683	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2361684	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2631721	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28637561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882668	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs319680	0.90[AFR][1000 genomes]
rs319681	0.84[EUR][1000 genomes]
rs319682	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs319684	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs319685	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs319686	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs319687	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs319688	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs319689	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs319690	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs319691	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs319692	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs319693	0.81[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.94[TSI][hapmap]
rs319694	0.94[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs319695	0.83[CHB][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap]
rs319696	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34025851	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34597784	0.83[EUR][1000 genomes]
rs34750113	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35199727	0.89[EUR][1000 genomes]
rs35314534	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35582375	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs35689209	0.94[EUR][1000 genomes]
rs35698005	0.82[AFR][1000 genomes]
rs3732529	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3772399	0.94[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs3888	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs3915654	0.94[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4293721	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296617	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4392441	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4599334	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4858810	0.92[CEU][hapmap]
rs4858860	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs4858863	0.81[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap]
rs4858871	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4858876	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4858880	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4858881	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4858882	0.86[EUR][1000 genomes]
rs4858887	0.99[EUR][1000 genomes]
rs5012971	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56067795	0.83[EUR][1000 genomes]
rs60446735	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61181421	0.82[AFR][1000 genomes]
rs62260830	0.82[EUR][1000 genomes]
rs6442090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6442091	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6442094	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6442096	0.94[EUR][1000 genomes]
rs6442101	0.96[CEU][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs6442102	0.92[CEU][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6763824	0.83[ASW][hapmap];0.81[CEU][hapmap]
rs6766641	0.85[EUR][1000 genomes]
rs6768318	0.86[EUR][1000 genomes]
rs6770477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6772396	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6773208	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6776963	0.84[CHB][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap]
rs6777081	0.82[EUR][1000 genomes]
rs6783629	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6791834	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6803741	0.96[CEU][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs6806820	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7374482	0.92[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7374516	0.89[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7426976	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7427418	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7427648	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7430879	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7430913	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7618163	0.82[EUR][1000 genomes]
rs7619882	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7620736	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7627645	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7629850	0.81[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap]
rs7642590	0.96[CEU][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7649981	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7651237	0.80[EUR][1000 genomes]
rs7653368	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs777014	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs777015	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs777017	0.89[EUR][1000 genomes]
rs796566	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs800762	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs810334	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs936428	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9811277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9812875	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9814961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9825114	0.92[CEU][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs9828959	0.89[EUR][1000 genomes]
rs9842649	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9846062	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9854454	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9860485	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9862913	0.89[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
7	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
8	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
9	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
10	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
11	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	esv3335628	chr3:48010796-48074001	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs6770467	ZNF589	cis	Adipose Subcutaneous	GTEx
rs6770467	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs6770467	CDC25A	cis	Thyroid	GTEx
rs6770467	GNAI2	cis	parietal	SCAN
rs6770467	MRPS18AP1	cis	Nerve Tibial	GTEx
rs6770467	CDC25A	cis	cerebellum	SCAN
rs6770467	ZNF589	cis	parietal	SCAN
rs6770467	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs6770467	HYAL2	cis	cerebellum	SCAN
rs6770467	ALS2CL	cis	parietal	SCAN
rs6770467	NME6	cis	cerebellum	SCAN
rs6770467	ZNF589	cis	Nerve Tibial	GTEx
rs6770467	SMARCC1	cis	cerebellum	SCAN
rs6770467	MRPS18AP1	cis	Artery Tibial	GTEx
rs6770467	MRPS18AP1	cis	Thyroid	GTEx
rs6770467	MRPS18AP1	cis	lung	GTEx
rs6770467	ZNF589	cis	cerebellum	SCAN
rs6770467	ZNF589	cis	Whole Blood	GTEx
rs6770467	NME6	cis	Esophagus Muscularis	GTEx
rs6770467	DHX30	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47998200-48031400	Weak transcription	Brain Germinal Matrix	brain
2	chr3:48003400-48029000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:48003800-48025600	Weak transcription	Adipose Nuclei	Adipose
4	chr3:48003800-48028400	Weak transcription	Fetal Kidney	kidney
5	chr3:48003800-48032800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr3:48003800-48034400	Weak transcription	Fetal Lung	lung
7	chr3:48003800-48034600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:48003800-48037200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr3:48003800-48039800	Weak transcription	Brain Angular Gyrus	brain
10	chr3:48003800-48047200	Weak transcription	Lung	lung
11	chr3:48003800-48060600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:48004000-48021000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:48004000-48022400	Weak transcription	Fetal Heart	heart
14	chr3:48004000-48024600	Weak transcription	Right Atrium	heart
15	chr3:48004000-48031400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:48004000-48031400	Weak transcription	Fetal Intestine Small	intestine
17	chr3:48004000-48037200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:48004000-48037200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr3:48004000-48037400	Weak transcription	Right Ventricle	heart
20	chr3:48004000-48043600	Weak transcription	Small Intestine	intestine
21	chr3:48004000-48045400	Weak transcription	Placenta	Placenta
22	chr3:48004000-48046200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:48004000-48050600	Weak transcription	Pancreas	Pancrea
24	chr3:48004200-48025200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:48004200-48028400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr3:48004400-48025400	Weak transcription	NHLF	lung
27	chr3:48004600-48025200	Weak transcription	Hela-S3	cervix
28	chr3:48004600-48031000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:48004600-48035400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:48004800-48025600	Weak transcription	HMEC	breast
31	chr3:48004800-48031200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr3:48005000-48031200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:48005000-48035800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:48005200-48031200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:48005200-48037200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:48005800-48026800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr3:48005800-48027000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:48005800-48032200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:48006600-48026800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr3:48007000-48026800	Weak transcription	Liver	Liver
41	chr3:48007600-48031000	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:48009600-48032800	Weak transcription	Fetal Stomach	stomach
43	chr3:48009800-48025600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:48010800-48020000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:48011000-48020000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:48011800-48037400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:48012200-48019400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:48012600-48019600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:48013000-48026800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr3:48013200-48020200	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links