Variant report

Variant	rs55904204
Chromosome Location	chr12:118423380-118423381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16948013	1.00[EUR][1000 genomes]
rs57602221	1.00[EUR][1000 genomes]
rs57850246	1.00[EUR][1000 genomes]
rs58100614	1.00[EUR][1000 genomes]
rs60915005	1.00[EUR][1000 genomes]
rs7299791	1.00[EUR][1000 genomes]
rs7309319	1.00[EUR][1000 genomes]
rs73406687	1.00[ASN][1000 genomes]
rs73408416	1.00[EUR][1000 genomes]
rs9651902	1.00[EUR][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	nsv560388	chr12:118391600-118482352	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118419200-118424000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:118419400-118423800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:118419400-118424000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:118422000-118424400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:118422000-118425800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:118422200-118423600	Enhancers	A549	lung
7	chr12:118422400-118424400	Enhancers	Osteobl	bone
8	chr12:118422800-118424200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:118422800-118425800	Enhancers	NHEK	skin
10	chr12:118423000-118425800	Enhancers	HMEC	breast

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Input of quick search could be:

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

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