Variant report

Variant	rs2371559
Chromosome Location	chr12:57198857-57198858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10876920	0.94[ASN][1000 genomes]
rs10876921	0.94[ASN][1000 genomes]
rs10876930	0.92[ASN][1000 genomes]
rs10876931	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11171985	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2371561	0.96[ASN][1000 genomes]
rs7136081	0.96[ASN][1000 genomes]
rs7957053	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv826382	chr12:57151464-57208607	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57194000-57200200	Enhancers	Liver	Liver
2	chr12:57195600-57199200	Enhancers	Pancreas	Pancrea
3	chr12:57197600-57199000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:57198600-57199200	ZNF genes & repeats	Lung	lung
5	chr12:57198600-57200200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:57198600-57202400	Weak transcription	HMEC	breast
7	chr12:57198800-57199000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
8	chr12:57198800-57199000	Bivalent Enhancer	HepG2	liver
9	chr12:57198800-57199400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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