Variant report

Variant	rs12613959
Chromosome Location	chr2:62769988-62769989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11904315	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12151765	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12471388	0.85[ASN][1000 genomes]
rs13429359	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4494727	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55776722	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58257459	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62178042	0.93[ASN][1000 genomes]
rs6708322	0.86[ASN][1000 genomes]
rs6708968	0.88[ASN][1000 genomes]
rs6726083	0.87[ASN][1000 genomes]
rs6752833	0.88[ASN][1000 genomes]
rs6753189	0.88[ASN][1000 genomes]
rs72885263	0.90[ASN][1000 genomes]
rs72885271	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs901532	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv834226	chr2:62745027-62894013	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3336776	chr2:62747914-62813461	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv874232	chr2:62758044-62906084	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv834237	chr2:62762743-62926036	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62763400-62772800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:62764000-62770200	Enhancers	Fetal Intestine Small	intestine
3	chr2:62764800-62772000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:62767600-62772800	Weak transcription	NHDF-Ad	bronchial
5	chr2:62768000-62770000	Enhancers	HepG2	liver
6	chr2:62768400-62772400	Weak transcription	Gastric	stomach
7	chr2:62768400-62772400	Weak transcription	Pancreas	Pancrea
8	chr2:62768400-62774800	Weak transcription	Osteobl	bone
9	chr2:62768600-62770000	Weak transcription	Ovary	ovary
10	chr2:62768600-62772600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:62769000-62772600	Weak transcription	Adipose Nuclei	Adipose
12	chr2:62769000-62774800	Weak transcription	A549	lung
13	chr2:62769200-62770200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:62769200-62772600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:62769400-62774600	Weak transcription	Fetal Intestine Large	intestine
16	chr2:62769600-62770600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:62769800-62770200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:62769800-62770200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:62769800-62770200	Enhancers	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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