Variant report

Variant	rs2127057
Chromosome Location	chr8:114435905-114435906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:114435797..114438781-chr8:114443874..114445936,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10099644	0.81[JPT][hapmap]
rs1055168	0.81[JPT][hapmap]
rs10955661	0.81[EUR][1000 genomes]
rs1533274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884600	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16884604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16884651	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16884657	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16884662	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16884689	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16884700	0.91[CHB][hapmap]
rs1993895	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279160	0.82[JPT][hapmap]
rs2942849	0.82[JPT][hapmap]
rs2942850	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2954900	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4074797	0.81[JPT][hapmap]
rs57433086	0.82[AMR][1000 genomes]
rs61249889	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs719213	0.90[CHB][hapmap];0.82[AMR][1000 genomes]
rs7464662	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs922467	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2754463	chr8:114353649-114501547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034533	chr8:114413358-114436712	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1020674	chr8:114413358-114439498	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2761461	chr8:114420164-114462173	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr8:114434400-114436400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:114434600-114436200	Enhancers	Brain Anterior Caudate	brain
3	chr8:114435000-114436400	Enhancers	Brain Substantia Nigra	brain
4	chr8:114435200-114436400	Enhancers	Hela-S3	cervix
5	chr8:114435400-114436200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:114435600-114436000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:114435600-114436000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:114435600-114436000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:114435600-114436400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr8:114435800-114436000	Enhancers	Brain Hippocampus Middle	brain
11	chr8:114435800-114436200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:114435800-114437000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:114435800-114438000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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