Variant report

Variant	rs2385447
Chromosome Location	chr8:124565888-124565889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124559432..124561596-chr8:124564087..124567565,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12541523	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13256806	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41319847	0.96[ASN][1000 genomes]
rs4870856	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7010236	0.89[EUR][1000 genomes]
rs7816943	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7840558	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7843874	0.84[EUR][1000 genomes]
rs9642867	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124558800-124571400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:124562400-124566000	Enhancers	Adipose Nuclei	Adipose
3	chr8:124562600-124566000	Enhancers	HMEC	breast
4	chr8:124562600-124566000	Enhancers	NHDF-Ad	bronchial
5	chr8:124563200-124566000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:124563400-124566000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:124564800-124566000	Enhancers	Fetal Lung	lung
8	chr8:124564800-124566600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:124565000-124566000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:124565000-124566000	Enhancers	Liver	Liver
11	chr8:124565000-124566200	Enhancers	Fetal Muscle Leg	muscle
12	chr8:124565000-124566600	Enhancers	Fetal Brain Male	brain
13	chr8:124565200-124567000	Weak transcription	NHEK	skin
14	chr8:124565400-124566200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:124565400-124567800	Weak transcription	Fetal Stomach	stomach
16	chr8:124565400-124569800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:124565600-124566200	Enhancers	Osteobl	bone
18	chr8:124565800-124566000	Enhancers	Fetal Muscle Trunk	muscle
19	chr8:124565800-124566200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:124565800-124566200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:124565800-124566600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:124565800-124569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:124565800-124569600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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