Variant report

Variant	rs61030560
Chromosome Location	chr8:124909043-124909044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10089499	0.88[ASN][1000 genomes]
rs10089757	0.90[ASN][1000 genomes]
rs10110548	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10956153	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956154	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10956155	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10956156	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11779980	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11782845	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11787464	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12541526	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544278	0.83[ASN][1000 genomes]
rs12548182	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12548510	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12550262	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28425543	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28703921	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7844410	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9656949	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124906600-124909200	Enhancers	Ovary	ovary
2	chr8:124907000-124909600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:124907400-124909800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:124907400-124909800	Enhancers	NHDF-Ad	bronchial
5	chr8:124907800-124910000	Weak transcription	Liver	Liver
6	chr8:124908200-124909200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:124908200-124909200	Enhancers	Adipose Nuclei	Adipose
8	chr8:124908200-124909600	Enhancers	Fetal Muscle Leg	muscle
9	chr8:124908400-124909600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr8:124908400-124909600	Enhancers	Hela-S3	cervix
11	chr8:124908400-124909800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:124908600-124909800	Enhancers	NHEK	skin
13	chr8:124908600-124910000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:124909000-124909400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:124909000-124909400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:124909000-124909400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:124909000-124909400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:124909000-124909600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:124909000-124909600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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