Variant report

Variant	rs11693596
Chromosome Location	chr2:46623611-46623612
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1109286	0.85[ASN][1000 genomes]
rs11675232	0.85[AMR][1000 genomes]
rs11675328	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11675441	0.84[AMR][1000 genomes]
rs11678465	0.89[AMR][1000 genomes]
rs11678817	0.88[AMR][1000 genomes]
rs11681242	0.82[AMR][1000 genomes]
rs11686509	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11686705	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11690114	0.84[ASN][1000 genomes]
rs11690951	0.88[AMR][1000 genomes]
rs11691694	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11693754	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11694193	0.89[AMR][1000 genomes]
rs13006131	0.85[AMR][1000 genomes]
rs1530622	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1868092	0.92[AMR][1000 genomes]
rs1868093	0.92[AMR][1000 genomes]
rs1868094	0.92[AMR][1000 genomes]
rs35193335	0.95[ASN][1000 genomes]
rs4952823	0.88[ASN][1000 genomes]
rs55826825	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56161503	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58481769	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59034065	0.84[AMR][1000 genomes]
rs62138871	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7557402	0.85[AMR][1000 genomes]
rs7567582	0.89[AMR][1000 genomes]
rs7583088	0.89[AMR][1000 genomes]
rs7583392	0.89[AMR][1000 genomes]
rs7591548	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7594278	0.89[AMR][1000 genomes]
rs7598371	0.88[AMR][1000 genomes]
rs7605241	0.81[EUR][1000 genomes]
rs7606559	0.88[AMR][1000 genomes]
rs9677412	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46613200-46644200	Weak transcription	Aorta	Aorta
2	chr2:46615400-46624800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:46620400-46631600	Weak transcription	K562	blood
4	chr2:46622600-46623800	Enhancers	HepG2	liver
5	chr2:46622800-46631200	Weak transcription	Placenta	Placenta

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