Variant report

Variant	rs62518431
Chromosome Location	chr8:124564322-124564323
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	chr8:124562347..124564548-chr8:124566856..124570361,3	MCF-7	breast:
2	chr8:124559432..124561596-chr8:124564087..124567565,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17254013	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28578258	0.84[ASN][1000 genomes]
rs28627713	0.84[ASN][1000 genomes]
rs4529453	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871385	0.84[ASN][1000 genomes]
rs4871387	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871388	0.92[ASN][1000 genomes]
rs4871389	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62518436	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62520861	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62520864	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62520865	0.91[EUR][1000 genomes]
rs62520872	0.88[EUR][1000 genomes]
rs62521293	0.84[ASN][1000 genomes]
rs7821824	0.84[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	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
2	nsv525827	chr8:124555235-124565311	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124558800-124571400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:124559400-124564800	Weak transcription	Fetal Lung	lung
3	chr8:124559400-124564800	Weak transcription	Fetal Stomach	stomach
4	chr8:124559600-124564800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:124562400-124564800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:124562400-124564800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:124562400-124565000	Enhancers	Osteobl	bone
8	chr8:124562400-124565200	Enhancers	NHEK	skin
9	chr8:124562400-124566000	Enhancers	Adipose Nuclei	Adipose
10	chr8:124562600-124565400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:124562600-124565400	Enhancers	HSMMtube	muscle
12	chr8:124562600-124565800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:124562600-124565800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:124562600-124565800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:124562600-124566000	Enhancers	HMEC	breast
16	chr8:124562600-124566000	Enhancers	NHDF-Ad	bronchial
17	chr8:124562800-124565400	Enhancers	NH-A	brain
18	chr8:124563200-124564400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:124563200-124566000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:124563400-124565400	Enhancers	Esophagus	oesophagus
21	chr8:124563400-124565400	Enhancers	Ovary	ovary
22	chr8:124563400-124565800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:124563400-124566000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:124563800-124564800	Weak transcription	NHLF	lung
25	chr8:124564000-124565000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:124564000-124565000	Weak transcription	HSMM	muscle
27	chr8:124564200-124565600	Enhancers	Aorta	Aorta

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