Variant report

Variant	rs6048478
Chromosome Location	chr20:22964117-22964118
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6036274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6036321	1.00[AMR][1000 genomes]
rs6048495	1.00[AFR][1000 genomes]
rs6048517	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22957600-22965200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr20:22960000-22964800	Weak transcription	Fetal Lung	lung
3	chr20:22963000-22964400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr20:22963200-22966400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr20:22963400-22965000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr20:22964000-22967400	Enhancers	Dnd41	blood
7	chr20:22964000-22968200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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