Variant report

Variant	rs6082979
Chromosome Location	chr20:23002670-23002671
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11696134	0.84[ASW][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2207106	0.81[CEU][hapmap]
rs220979	0.85[MKK][hapmap];1.00[YRI][hapmap]
rs220990	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2235951	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2235952	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2567608	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2567609	0.84[CEU][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2567613	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2567614	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6082981	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6113897	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6113909	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7361512	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr20:22996000-23006200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:23001000-23005800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:23001000-23008800	Weak transcription	Lung	lung
4	chr20:23001000-23015800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:23001200-23003200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr20:23001600-23005600	Enhancers	Stomach Mucosa	stomach
7	chr20:23002000-23003000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr20:23002000-23003000	Enhancers	Dnd41	blood
9	chr20:23002200-23002800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr20:23002600-23003000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:23002600-23003000	Enhancers	HMEC	breast
12	chr20:23002600-23004000	Enhancers	NHDF-Ad	bronchial
13	chr20:23002600-23004400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:23002600-23005600	Weak transcription	hESC Derived CD184+ Endoderm 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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