Variant report

Variant	rs73325462
Chromosome Location	chr8:120067092-120067093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11573877	1.00[AMR][1000 genomes]
rs11573902	1.00[AMR][1000 genomes]
rs56812049	1.00[AMR][1000 genomes]
rs57160658	1.00[AMR][1000 genomes]
rs59007607	1.00[AMR][1000 genomes]
rs73312837	1.00[AMR][1000 genomes]
rs73315570	1.00[AMR][1000 genomes]
rs73317506	1.00[AMR][1000 genomes]
rs73319638	1.00[AMR][1000 genomes]
rs73321801	1.00[AMR][1000 genomes]
rs73325451	1.00[AMR][1000 genomes]
rs73325464	1.00[AMR][1000 genomes]
rs73325500	1.00[AMR][1000 genomes]
rs73327207	1.00[AMR][1000 genomes]
rs73327265	1.00[AMR][1000 genomes]
rs73709556	1.00[AMR][1000 genomes]
rs7818753	1.00[AMR][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120059800-120067400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:120062800-120067600	Enhancers	Osteobl	bone
3	chr8:120062800-120067800	Enhancers	NHDF-Ad	bronchial
4	chr8:120063000-120067800	Enhancers	NH-A	brain
5	chr8:120063600-120067800	Enhancers	HMEC	breast
6	chr8:120065200-120068200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:120065400-120067600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:120065600-120067400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:120065800-120067600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:120065800-120067800	Enhancers	NHEK	skin
11	chr8:120066400-120067400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:120066400-120067400	Weak transcription	Fetal Lung	lung
13	chr8:120066600-120067800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:120066600-120067800	Enhancers	NHLF	lung
15	chr8:120066800-120067600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:120066800-120067600	Enhancers	HUVEC	blood vessel
17	chr8:120066800-120067800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:120067000-120067400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:120067000-120067800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:120067000-120068200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:120067000-120069400	Enhancers	Hela-S3	cervix
22	chr8:120067000-120076000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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