Variant report

Variant	rs7000790
Chromosome Location	chr8:125780081-125780082
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	chr8:125779079..125781050-chr8:125783102..125785797,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10096762	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10096773	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10111362	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10441517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956210	0.93[ASN][1000 genomes]
rs10956211	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956212	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956213	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34102348	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34642461	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35401131	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35468637	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35806510	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36117845	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871545	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871548	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60194127	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62530567	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62530568	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470281	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470283	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470285	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66919556	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6987769	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7465312	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7465366	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7821674	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7822172	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7822246	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7822339	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7823921	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7824418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7840165	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7840339	0.95[ASN][1000 genomes]
rs7840519	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7840542	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9297697	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297698	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9643204	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	chr8:125774200-125795800	Weak transcription	Pancreas	Pancrea
2	chr8:125778200-125783200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:125778200-125783600	Weak transcription	NHDF-Ad	bronchial
4	chr8:125778600-125781600	Enhancers	Fetal Intestine Large	intestine
5	chr8:125778600-125781600	Enhancers	Fetal Intestine Small	intestine
6	chr8:125778800-125780400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:125779000-125780800	Enhancers	Liver	Liver
8	chr8:125779000-125780800	Enhancers	Stomach Mucosa	stomach
9	chr8:125779000-125784000	Weak transcription	Brain Anterior Caudate	brain
10	chr8:125779000-125788000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:125779600-125780400	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:125779600-125780400	Flanking Active TSS	HepG2	liver
13	chr8:125779600-125781400	Enhancers	Fetal Heart	heart
14	chr8:125780000-125780200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr8:125780000-125780200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr8:125780000-125780400	Enhancers	Left Ventricle	heart
17	chr8:125780000-125780800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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