Variant report

Variant	rs6048015
Chromosome Location	chr20:22286809-22286810
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11904956	1.00[AMR][1000 genomes]
rs11908413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6036069	1.00[AMR][1000 genomes]
rs6036078	1.00[AMR][1000 genomes]
rs6047969	1.00[AMR][1000 genomes]
rs6047980	1.00[AMR][1000 genomes]
rs6047981	1.00[AMR][1000 genomes]
rs6047996	1.00[AMR][1000 genomes]
rs6048002	1.00[AMR][1000 genomes]
rs6048014	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833942	chr20:22283122-22440749	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22286200-22288200	Enhancers	HSMMtube	muscle
2	chr20:22286600-22287200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:22286600-22287400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:22286600-22287800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr20:22286600-22288200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr20:22286600-22288200	Enhancers	NHEK	skin
7	chr20:22286800-22288400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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