Variant report

Variant	rs12479987
Chromosome Location	chr20:15593138-15593139
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]
rs12480038	1.00[CEU][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17622468	0.86[CEU][hapmap];0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs17694826	0.82[EUR][1000 genomes]
rs17694839	0.83[EUR][1000 genomes]
rs200755	1.00[JPT][hapmap]
rs200760	0.89[JPT][hapmap]
rs2111044	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[EUR][1000 genomes]
rs3803976	0.84[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs462873	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6110694	0.84[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62196464	0.89[EUR][1000 genomes];0.83[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	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15584800-15593600	Weak transcription	Fetal Intestine Small	intestine
2	chr20:15589000-15596000	Enhancers	Fetal Heart	heart
3	chr20:15591000-15595200	Enhancers	Liver	Liver
4	chr20:15591600-15594400	Weak transcription	Aorta	Aorta
5	chr20:15592200-15594800	Enhancers	Fetal Lung	lung
6	chr20:15592600-15593200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:15592800-15594400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr20:15592800-15594400	Enhancers	Brain Germinal Matrix	brain
9	chr20:15593000-15594000	Enhancers	H9 Derived Neuronal Progenitor 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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