Variant report

Variant	rs58209053
Chromosome Location	chr8:11336964-11336965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1478886	0.82[ASN][1000 genomes]
rs1531576	0.89[ASN][1000 genomes]
rs17153343	0.92[EUR][1000 genomes]
rs56967170	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59028919	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717717	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73537729	0.92[EUR][1000 genomes]
rs756038	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11332600-11337400	Weak transcription	Fetal Thymus	thymus
2	chr8:11332800-11337000	Weak transcription	HMEC	breast
3	chr8:11332800-11337000	Weak transcription	Osteobl	bone
4	chr8:11332800-11337200	Weak transcription	Lung	lung
5	chr8:11332800-11337200	Weak transcription	HUVEC	blood vessel
6	chr8:11332800-11337600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:11332800-11337800	Weak transcription	NHLF	lung
8	chr8:11332800-11338000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr8:11332800-11338200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:11333000-11337800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:11333000-11337800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:11333400-11337000	Weak transcription	NH-A	brain
13	chr8:11333600-11337000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:11333600-11337000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:11333600-11337000	Weak transcription	A549	lung
16	chr8:11333600-11337200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:11333600-11337200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:11333600-11337200	Weak transcription	HSMMtube	muscle
19	chr8:11333800-11337000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:11333800-11337200	Weak transcription	HSMM	muscle
21	chr8:11334200-11337200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:11334800-11339400	Weak transcription	Esophagus	oesophagus
23	chr8:11335000-11337400	Weak transcription	Placenta	Placenta
24	chr8:11335000-11338400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:11336000-11339800	Enhancers	NHEK	skin
26	chr8:11336200-11337400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:11336200-11337400	Enhancers	GM12878-XiMat	blood
28	chr8:11336200-11339400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:11336200-11343200	Enhancers	Primary B cells from peripheral blood	blood
30	chr8:11336400-11340200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:11336600-11337000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:11336600-11337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:11336600-11339800	Enhancers	NHDF-Ad	bronchial
34	chr8:11336800-11338200	Weak transcription	Primary B cells from cord blood	blood

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