Variant report

Variant	rs62510172
Chromosome Location	chr8:117645216-117645217
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	chr8:117613536..117615216-chr8:117643814..117646572,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17805852	0.92[EUR][1000 genomes]
rs62510184	0.92[EUR][1000 genomes]
rs62510188	0.92[EUR][1000 genomes]
rs62510189	0.92[EUR][1000 genomes]
rs62510193	0.92[EUR][1000 genomes]
rs72683604	0.92[EUR][1000 genomes]

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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv2757288	chr8:117623719-117645687	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
3	esv2759638	chr8:117623719-117645687	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv1024038	chr8:117630683-117645687	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv1020480	chr8:117630683-117652448	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117635800-117646200	Weak transcription	Right Atrium	heart
2	chr8:117636400-117670800	Weak transcription	Pancreas	Pancrea
3	chr8:117637400-117656600	Weak transcription	Aorta	Aorta
4	chr8:117638800-117649000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:117640600-117662000	Weak transcription	Fetal Brain Female	brain
6	chr8:117641200-117665600	Weak transcription	Fetal Brain Male	brain
7	chr8:117642000-117655800	Weak transcription	Lung	lung
8	chr8:117642400-117654800	Weak transcription	Primary B cells from cord blood	blood
9	chr8:117642400-117656600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:117643200-117647200	Weak transcription	Fetal Heart	heart
11	chr8:117643200-117647400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:117643400-117647000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:117643800-117646000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:117643800-117655600	Weak transcription	Left Ventricle	heart
15	chr8:117644000-117655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:117644000-117655600	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:117644000-117655600	Weak transcription	Fetal Stomach	stomach
18	chr8:117644000-117655800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:117644000-117656600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:117644000-117657600	Weak transcription	NHEK	skin
21	chr8:117644600-117655400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:117644800-117656200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:117645000-117648400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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