Variant report

Variant	rs8119599
Chromosome Location	chr20:22847104-22847105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12624691	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12625728	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1411783	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4815150	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57014789	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57418600	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59800539	0.87[EUR][1000 genomes]
rs6036239	0.94[AFR][1000 genomes]
rs61503703	0.89[EUR][1000 genomes]
rs73301685	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73301686	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs926746	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv510782	chr20:22806573-22907739	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22843000-22847800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr20:22845600-22848200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr20:22846400-22848400	Enhancers	HSMM	muscle
4	chr20:22846400-22849000	Enhancers	HSMMtube	muscle
5	chr20:22846600-22847800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:22847000-22848000	Enhancers	HUVEC	blood vessel

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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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