Variant report

Variant	rs57444623
Chromosome Location	chr12:48905974-48905975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10875827	0.87[ASN][1000 genomes]
rs11168577	0.90[ASN][1000 genomes]
rs11168586	0.90[ASN][1000 genomes]
rs11168599	0.99[ASN][1000 genomes]
rs11168618	0.88[ASN][1000 genomes]
rs11168619	0.88[ASN][1000 genomes]
rs11458	0.99[ASN][1000 genomes]
rs12371700	0.96[ASN][1000 genomes]
rs2731091	0.84[ASN][1000 genomes]
rs2731094	0.84[ASN][1000 genomes]
rs2731095	0.84[ASN][1000 genomes]
rs2731097	0.83[ASN][1000 genomes]
rs2731107	0.84[ASN][1000 genomes]
rs35338015	0.87[ASN][1000 genomes]
rs4359253	0.88[ASN][1000 genomes]
rs6580671	0.90[ASN][1000 genomes]
rs7302209	0.99[ASN][1000 genomes]
rs7955785	0.92[ASN][1000 genomes]
rs7972785	0.96[ASN][1000 genomes]
rs7974213	0.99[ASN][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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv1803653	chr12:48905575-48923774	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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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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