Variant report

Variant	rs11686509
Chromosome Location	chr2:46624372-46624373
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1109286	0.89[ASN][1000 genomes]
rs11675328	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686705	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11689649	0.82[EUR][1000 genomes]
rs11689694	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11689989	0.92[EUR][1000 genomes]
rs11690114	0.88[ASN][1000 genomes]
rs11691694	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11693596	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11693754	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530622	0.87[ASN][1000 genomes]
rs1900592	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35193335	0.99[ASN][1000 genomes]
rs4952823	0.92[ASN][1000 genomes]
rs55826825	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55864213	0.92[EUR][1000 genomes]
rs56058321	0.92[EUR][1000 genomes]
rs56140012	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58481769	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138871	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591548	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605241	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9677412	0.90[AMR][1000 genomes];0.94[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:4 , 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	chr2:46622800-46631200	Weak transcription	Placenta	Placenta

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