Variant report

Variant	rs56726194
Chromosome Location	chr12:10463767-10463768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10743882	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10743883	0.80[ASN][1000 genomes]
rs10845080	0.89[ASN][1000 genomes]
rs11053736	0.94[ASN][1000 genomes]
rs12578135	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12581396	0.84[ASN][1000 genomes]
rs2537771	0.80[ASN][1000 genomes]
rs2537773	0.80[ASN][1000 genomes]
rs2537802	0.84[ASN][1000 genomes]
rs2617147	0.80[ASN][1000 genomes]
rs2908447	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2908448	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3912115	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3933794	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57401526	0.84[ASN][1000 genomes]
rs58690639	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59051948	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60130117	0.84[ASN][1000 genomes]
rs7135451	0.84[ASN][1000 genomes]
rs7297855	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74062115	0.82[ASN][1000 genomes]
rs7966462	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9788026	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv605	chr12:10448638-10494208	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10454800-10474400	Weak transcription	Left Ventricle	heart
2	chr12:10458000-10464200	Active TSS	Primary T cells fromperipheralblood	blood
3	chr12:10461200-10467400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:10461600-10463800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:10462000-10463800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:10462800-10471400	Weak transcription	Right Ventricle	heart
7	chr12:10463200-10470800	Weak transcription	Placenta	Placenta
8	chr12:10463400-10464400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:10463400-10464400	Flanking Active TSS	HUVEC	blood vessel
10	chr12:10463600-10464000	Enhancers	Hela-S3	cervix
11	chr12:10463600-10464400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:10463600-10464400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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