Variant report

Variant	rs56305940
Chromosome Location	chr6:81238244-81238245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56836923	1.00[AMR][1000 genomes]
rs57554841	1.00[AMR][1000 genomes]
rs58855828	1.00[AMR][1000 genomes]
rs60133974	1.00[AMR][1000 genomes]
rs6917382	1.00[AMR][1000 genomes]
rs73477693	1.00[AMR][1000 genomes]
rs73479714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479719	1.00[AMR][1000 genomes]
rs73479721	1.00[AMR][1000 genomes]
rs73481805	1.00[AMR][1000 genomes]
rs73748658	1.00[AMR][1000 genomes]
rs9449084	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1019670	chr6:81086504-81569984	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv915714	chr6:81134888-81366749	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv886311	chr6:81166178-81239971	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv886312	chr6:81166178-81309481	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv886313	chr6:81177227-81239971	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv463908	chr6:81232993-81287675	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv604054	chr6:81232993-81287675	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81233600-81249600	Weak transcription	HSMM	muscle
2	chr6:81234200-81239200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:81234200-81245000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:81234200-81245200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:81234200-81249600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:81237000-81238400	Enhancers	Fetal Intestine Small	intestine
7	chr6:81237400-81238400	Enhancers	Fetal Heart	heart
8	chr6:81237800-81238400	Enhancers	Pancreas	Pancrea
9	chr6:81237800-81238800	Enhancers	NHDF-Ad	bronchial
10	chr6:81238000-81238400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:81238000-81238400	Enhancers	Liver	Liver
12	chr6:81238000-81238400	Enhancers	HepG2	liver
13	chr6:81238200-81241200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:81238200-81241600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:81238200-81241600	Weak transcription	Fetal Lung	lung

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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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