Variant report

Variant	rs12492748
Chromosome Location	chr3:53496877-53496878
allele	C/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:13)

rs_ID	r²[population]
rs11130368	1.00[AMR][1000 genomes]
rs12488068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12491071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493165	0.93[AMR][1000 genomes]
rs12494167	0.81[AMR][1000 genomes]
rs12631120	0.81[AMR][1000 genomes]
rs1384970	0.87[AMR][1000 genomes]
rs17053081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1961499	0.81[AMR][1000 genomes]
rs28481733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34016406	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3755816	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4432635	1.00[EUR][1000 genomes];0.86[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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr3:53494800-53497000	Enhancers	Fetal Intestine Large	intestine
2	chr3:53496800-53497000	ZNF genes & repeats	Pancreas	Pancrea

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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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