Variant report

Variant	rs463308
Chromosome Location	chr20:15585109-15585110
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:11)

rs_ID	r²[population]
rs17622468	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs17694374	0.84[CEU][hapmap]
rs17694826	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs17694839	0.92[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs3803976	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs456029	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs458289	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs461936	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs462873	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs6110694	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs62196464	0.83[EUR][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	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2751909	chr20:15489871-15656007	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15583200-15589000	Weak transcription	Fetal Heart	heart
2	chr20:15583800-15585400	Enhancers	Placenta	Placenta
3	chr20:15584600-15585400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:15584600-15585600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr20:15584800-15593600	Weak transcription	Fetal Intestine Small	intestine

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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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