Variant report

Variant	rs56053566
Chromosome Location	chr12:48914958-48914959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11611327	0.84[EUR][1000 genomes]
rs11613869	0.84[ASN][1000 genomes]
rs12318285	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12424097	0.84[ASN][1000 genomes]
rs17123109	0.82[ASN][1000 genomes]
rs2731072	0.89[ASN][1000 genomes]
rs56413025	0.92[EUR][1000 genomes]
rs60874066	0.84[ASN][1000 genomes]
rs61942833	0.91[EUR][1000 genomes]
rs73300707	0.84[ASN][1000 genomes]
rs73302549	0.84[ASN][1000 genomes]
rs74087209	0.84[ASN][1000 genomes]
rs9788163	0.84[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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48914800-48915400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links