Variant report

Variant	rs7658762
Chromosome Location	chr4:53688988-53688989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1109696	0.91[ASW][hapmap];0.84[YRI][hapmap]
rs11931802	0.86[AFR][1000 genomes]
rs11932601	0.84[YRI][hapmap]
rs17082084	0.83[ASW][hapmap];0.85[YRI][hapmap]
rs2007936	0.84[YRI][hapmap]
rs2007959	0.89[ASW][hapmap];0.84[YRI][hapmap]
rs35848848	1.00[AMR][1000 genomes]
rs6817433	0.84[YRI][hapmap]
rs6847299	0.91[ASW][hapmap];1.00[YRI][hapmap]
rs6858566	0.83[ASW][hapmap];0.90[YRI][hapmap]
rs755523	0.94[AFR][1000 genomes]
rs7655781	0.83[YRI][hapmap]
rs7688141	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1000931	chr4:53420849-53689319	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv537093	chr4:53420849-53689319	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53688600-53689000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:53688600-53689000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:53688600-53692400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:53688600-53692400	Enhancers	NHDF-Ad	bronchial
5	chr4:53688600-53692600	Enhancers	HMEC	breast
6	chr4:53688800-53689000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:53688800-53689400	Enhancers	HSMMtube	muscle
8	chr4:53688800-53689800	Flanking Active TSS	NHEK	skin
9	chr4:53688800-53690200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:53688800-53690400	Enhancers	Hela-S3	cervix
11	chr4:53688800-53692200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:53688800-53692400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:53688800-53692400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:53688800-53692600	Enhancers	Ovary	ovary

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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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