Variant report

Variant	rs58459118
Chromosome Location	chr12:66867077-66867078
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10506484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878437	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176196	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11176204	0.93[ASN][1000 genomes]
rs11176205	0.92[ASN][1000 genomes]
rs11176206	0.93[ASN][1000 genomes]
rs11608268	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11613371	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12229196	0.93[ASN][1000 genomes]
rs12229755	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423909	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12426780	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12426787	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12426810	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12581104	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12581129	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12581152	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12581225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582720	0.85[EUR][1000 genomes]
rs1289	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1290	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1389326	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1493485	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1565730	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17245879	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17245893	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17245914	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17245927	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17245958	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17826399	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17826610	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36193666	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3751276	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3920021	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4628763	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4644699	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4913301	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4913306	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4913309	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4913434	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4913435	0.89[EUR][1000 genomes]
rs4913501	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4913503	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4913510	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4913511	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55650393	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56219012	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57923140	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58720434	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59747012	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60282479	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61690286	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66656315	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66718779	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67093681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67312362	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67385685	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67590485	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132569	0.93[ASN][1000 genomes]
rs7135845	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7135945	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72648170	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7304369	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7304443	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7304485	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7307402	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7307540	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7311930	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7313348	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7316727	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7316747	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7961635	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7976314	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1051713	chr12:66745716-66889411	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv469459	chr12:66854354-66950289	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559206	chr12:66854354-66950289	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66853000-66876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:66856800-66868400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:66860200-66868400	Weak transcription	Esophagus	oesophagus
4	chr12:66866400-66867200	ZNF genes & repeats	Pancreas	Pancrea
5	chr12:66866600-66868400	Weak transcription	Gastric	stomach
6	chr12:66867000-66867200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:66867000-66868400	Weak transcription	Right Atrium	heart

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