Variant report

Variant	rs55985689
Chromosome Location	chr20:53048240-53048241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11904915	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11907067	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16999610	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6091880	1.00[ASN][1000 genomes]
rs6091881	1.00[ASN][1000 genomes]
rs6097976	0.99[ASN][1000 genomes]
rs6097977	0.97[ASN][1000 genomes]
rs8115818	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834011	chr20:52858341-53086042	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv834012	chr20:52921007-53097177	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 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	chr20:53047400-53050800	Enhancers	Fetal Brain Female	brain
2	chr20:53047600-53048400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr20:53047600-53048400	Enhancers	Brain Germinal Matrix	brain
4	chr20:53047600-53049000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr20:53047600-53049200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:53047600-53051600	Enhancers	Fetal Brain Male	brain
7	chr20:53048000-53048400	Enhancers	Fetal Muscle Leg	muscle
8	chr20:53048200-53048400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:53048200-53048600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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