Variant report

Variant	rs3885952
Chromosome Location	chr8:130742744-130742745
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	chr8:130738688..130740229-chr8:130741129..130743486,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10092357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104476	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10110842	0.89[EUR][1000 genomes]
rs10111157	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10217049	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956493	1.00[CHB][hapmap]
rs11777392	0.93[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1481753	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1600794	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600932	1.00[CHB][hapmap]
rs1600933	1.00[CHB][hapmap]
rs1600934	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs17190932	1.00[CHB][hapmap];0.83[CHD][hapmap];0.93[ASN][1000 genomes]
rs1842793	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs1967019	1.00[CHB][hapmap]
rs2086639	0.93[ASN][1000 genomes]
rs2086640	0.93[ASN][1000 genomes]
rs2101163	0.93[ASN][1000 genomes]
rs2624801	0.86[ASN][1000 genomes]
rs28558572	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28855534	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28892959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298621	1.00[CHB][hapmap]
rs298622	1.00[CHB][hapmap]
rs298623	0.80[ASN][1000 genomes]
rs3963418	0.93[ASN][1000 genomes]
rs4385436	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501554	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4606023	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733558	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733730	0.93[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733731	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733735	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4733736	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55654760	0.86[ASN][1000 genomes]
rs59192669	0.93[ASN][1000 genomes]
rs60977383	0.93[ASN][1000 genomes]
rs61071273	0.93[ASN][1000 genomes]
rs62523852	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62523855	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62523857	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7461495	0.93[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967974	1.00[CHB][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8387	chr8:130711059-130756654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891447	chr8:130724556-130754719	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130738200-130744200	Weak transcription	Esophagus	oesophagus
2	chr8:130739200-130742800	Weak transcription	A549	lung
3	chr8:130740000-130745000	Weak transcription	Spleen	Spleen
4	chr8:130742000-130743000	Flanking Active TSS	NHEK	skin
5	chr8:130742000-130743200	Enhancers	NHLF	lung
6	chr8:130742000-130743400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:130742000-130743800	Enhancers	HMEC	breast
8	chr8:130742000-130744200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:130742200-130743000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:130742400-130743000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:130742600-130743200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:130742600-130743200	Enhancers	Osteobl	bone
13	chr8:130742600-130743800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:130742600-130744000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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