Variant report

Variant	rs4682434
Chromosome Location	chr3:112534069-112534070
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11918522	0.86[MEX][hapmap]
rs13064475	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1387015	0.83[ASW][hapmap];0.87[CEU][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes]
rs1387021	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6773083	0.85[GIH][hapmap];0.86[TSI][hapmap]
rs9809591	0.80[EUR][1000 genomes]
rs9835599	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4682434	GTPBP8	cis	multi-tissue	Pritchard

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112530200-112538800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:112533000-112535200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:112533000-112536200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:112533200-112534400	Weak transcription	NHLF	lung
5	chr3:112533200-112536600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:112533200-112537200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:112533200-112543200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:112533600-112534600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:112533600-112534600	Weak transcription	NHDF-Ad	bronchial
10	chr3:112533600-112536200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:112533600-112537200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:112533800-112534600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr3:112533800-112536600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:112534000-112534400	Weak transcription	A549	lung
15	chr3:112534000-112535600	Weak transcription	Primary B cells from peripheral blood	blood

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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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