Variant report

Variant	rs56104517
Chromosome Location	chr5:114976117-114976118
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10043094	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10051170	0.89[AMR][1000 genomes]
rs10055339	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10055514	0.82[AMR][1000 genomes]
rs10060594	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10069695	0.87[EUR][1000 genomes]
rs10073505	0.83[EUR][1000 genomes]
rs10077239	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10079000	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11953315	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11953359	0.89[ASN][1000 genomes]
rs11956382	0.88[ASN][1000 genomes]
rs13153908	0.84[EUR][1000 genomes]
rs13164381	0.91[ASN][1000 genomes]
rs2052834	0.87[EUR][1000 genomes]
rs2303746	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs746566	0.84[EUR][1000 genomes]
rs9326970	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114971800-114976800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:114972800-114976800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:114972800-114977000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:114974200-114977600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:114974400-114976200	Enhancers	Liver	Liver
6	chr5:114974400-114976400	Enhancers	Pancreas	Pancrea
7	chr5:114975400-114977600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:114976000-114976200	Enhancers	GM12878-XiMat	blood
9	chr5:114976000-114976600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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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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