Variant report

Variant	rs969053
Chromosome Location	chr4:166660717-166660718
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11936747	0.87[ASN][1000 genomes]
rs11943709	0.89[ASN][1000 genomes]
rs11946342	0.89[ASN][1000 genomes]
rs17632334	0.86[ASN][1000 genomes]
rs17632444	0.89[ASN][1000 genomes]
rs17688806	0.87[ASN][1000 genomes]
rs17688878	0.89[ASN][1000 genomes]
rs56142486	0.89[ASN][1000 genomes]
rs58582445	0.89[ASN][1000 genomes]
rs58585365	0.89[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	nsv830141	chr4:166502908-166689626	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3486584	chr4:166565013-166680227	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3486585	chr4:166565013-166680227	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2754222	chr4:166606890-166737921	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166658200-166660800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:166658400-166662000	Enhancers	HUVEC	blood vessel
3	chr4:166660000-166662000	Active TSS	HMEC	breast
4	chr4:166660000-166662600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:166660200-166668000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:166660400-166661000	Enhancers	NHEK	skin
7	chr4:166660600-166662000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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