Variant report

Variant	rs17025805
Chromosome Location	chr2:62793514-62793515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11689464	0.86[AFR][1000 genomes]
rs11904315	0.83[ASN][1000 genomes]
rs12151765	0.86[ASN][1000 genomes]
rs12713460	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs13429359	0.81[ASN][1000 genomes]
rs17025780	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4494727	0.81[ASN][1000 genomes]
rs55776722	0.83[ASN][1000 genomes]
rs58257459	0.89[ASN][1000 genomes]
rs62178042	0.83[ASN][1000 genomes]
rs6708322	0.81[ASN][1000 genomes]
rs6709361	0.89[AFR][1000 genomes]
rs6726083	0.81[ASN][1000 genomes]
rs72885271	0.83[ASN][1000 genomes]
rs901532	0.83[CHD][hapmap]
rs9973385	0.89[AFR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17025805	TMEM17	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62791000-62796400	Enhancers	HepG2	liver
2	chr2:62791400-62794800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:62792200-62794600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:62792200-62795200	Weak transcription	Fetal Intestine Large	intestine
5	chr2:62792400-62793800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr2:62792400-62794800	Weak transcription	Pancreas	Pancrea
7	chr2:62792800-62794600	Weak transcription	Liver	Liver
8	chr2:62793000-62794800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:62793000-62794800	Weak transcription	Ovary	ovary
10	chr2:62793000-62796400	Weak transcription	NHDF-Ad	bronchial
11	chr2:62793000-62798000	Weak transcription	NHLF	lung
12	chr2:62793200-62794400	Enhancers	HUVEC	blood vessel
13	chr2:62793200-62795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:62793400-62795600	Enhancers	A549	lung

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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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