Variant report

Variant	rs3020179
Chromosome Location	chr8:117949702-117949703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12676873	0.92[ASN][1000 genomes]
rs1348794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889283	0.84[ASN][1000 genomes]
rs16889293	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2860414	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020176	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66849010	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs977700	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891409	chr8:117948986-117972064	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117939200-117949800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:117948000-117950600	Weak transcription	NHEK	skin
3	chr8:117948400-117950000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:117948800-117949800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:117949400-117949800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:117949600-117949800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:117949600-117949800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:117949600-117949800	Active TSS	HMEC	breast
9	chr8:117949600-117950200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:117949600-117951000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr8:117949600-117951200	Active TSS	Colon Smooth Muscle	Colon

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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