Variant report

Variant	rs4931347
Chromosome Location	chr12:30656473-30656474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10843773	0.83[ASN][1000 genomes]
rs1848021	0.86[EUR][1000 genomes]
rs57800469	0.86[ASN][1000 genomes]
rs57865433	0.81[ASN][1000 genomes]
rs58828426	0.86[ASN][1000 genomes]
rs58828862	0.81[ASN][1000 genomes]
rs58849181	0.86[ASN][1000 genomes]
rs59540862	0.86[ASN][1000 genomes]
rs59849223	0.86[ASN][1000 genomes]
rs59971700	0.86[ASN][1000 genomes]
rs60094407	0.81[ASN][1000 genomes]
rs61330126	0.86[ASN][1000 genomes]
rs61921137	0.81[ASN][1000 genomes]
rs73083724	0.81[ASN][1000 genomes]
rs73083730	0.81[ASN][1000 genomes]
rs73287313	0.86[ASN][1000 genomes]
rs73287348	0.81[ASN][1000 genomes]
rs73287351	0.81[ASN][1000 genomes]
rs74082420	0.86[ASN][1000 genomes]
rs74084145	0.83[ASN][1000 genomes]
rs7968211	0.83[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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:30653600-30657600	Weak transcription	Liver	Liver
2	chr12:30655400-30657800	Weak transcription	HepG2	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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