Variant report

Variant	rs312945
Chromosome Location	chr2:21328825-21328826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11124434	0.94[ASN][1000 genomes]
rs11682662	0.86[ASN][1000 genomes]
rs11688672	0.82[ASN][1000 genomes]
rs12470574	0.91[ASN][1000 genomes]
rs12477767	0.82[ASN][1000 genomes]
rs12618519	0.86[ASN][1000 genomes]
rs13003754	0.94[ASN][1000 genomes]
rs13019377	0.92[ASN][1000 genomes]
rs312974	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs312976	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34144010	0.86[ASN][1000 genomes]
rs6749313	0.94[ASN][1000 genomes]
rs7557098	0.85[ASN][1000 genomes]
rs7567650	0.85[ASN][1000 genomes]
rs97458	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21327600-21330000	Weak transcription	HepG2	liver
2	chr2:21328200-21330000	Weak transcription	Liver	Liver

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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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