Variant report

Variant	rs2893625
Chromosome Location	chr8:52091026-52091027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12543396	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13260249	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13267688	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16915832	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1866099	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1866100	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2028157	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28692584	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28757734	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7462308	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs893308	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs984408	0.86[ASN][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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv2764079	chr8:51881783-52202880	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv465679	chr8:51883927-52189796	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv611350	chr8:51883927-52189796	Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1030378	chr8:51892949-52191830	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1031155	chr8:51907530-52173218	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52087600-52094000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:52089600-52100800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:52090000-52092600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:52090000-52093200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:52090600-52091400	Enhancers	GM12878-XiMat	blood
6	chr8:52090600-52091600	Active TSS	NH-A	brain
7	chr8:52090600-52092400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:52090800-52091200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:52090800-52092600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:52091000-52091200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:52091000-52091200	Enhancers	Esophagus	oesophagus
12	chr8:52091000-52091200	Flanking Active TSS	Hela-S3	cervix
13	chr8:52091000-52093000	Enhancers	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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