Variant report

Variant	rs13270557
Chromosome Location	chr8:125772282-125772283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13268191	0.84[EUR][1000 genomes]
rs4870926	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871534	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs4871536	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871537	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871538	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986404	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs7823383	0.81[ASN][1000 genomes]
rs7833381	0.84[ASN][1000 genomes]
rs7833511	0.84[ASN][1000 genomes]
rs7841287	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs7843472	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125764800-125773600	Weak transcription	NHDF-Ad	bronchial
2	chr8:125765000-125773600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:125767600-125772400	Weak transcription	Osteobl	bone
4	chr8:125767600-125772600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:125767800-125772400	Weak transcription	Fetal Heart	heart
6	chr8:125767800-125772600	Weak transcription	Pancreas	Pancrea
7	chr8:125770400-125772400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:125770400-125772400	Weak transcription	HSMM	muscle
9	chr8:125770600-125772400	Weak transcription	HSMMtube	muscle
10	chr8:125770800-125773600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:125770800-125773600	Weak transcription	Psoas Muscle	Psoas
12	chr8:125771000-125773400	Weak transcription	Primary B cells from cord blood	blood
13	chr8:125771000-125774200	Enhancers	Fetal Intestine Small	intestine
14	chr8:125771400-125773800	Enhancers	Fetal Intestine Large	intestine
15	chr8:125772000-125772600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:125772000-125772600	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr8:125772200-125773200	Enhancers	Rectal Mucosa Donor 31	rectum

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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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