Variant report

Variant	rs62224572
Chromosome Location	chr21:48100388-48100389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1054691	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2298370	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2839370	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2839373	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2839376	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61504104	0.80[EUR][1000 genomes]
rs62225737	0.93[AFR][1000 genomes];0.83[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	nsv587999	chr21:47941916-48103851	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
2	nsv965986	chr21:48099596-48104831	Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62224572	C21orf56	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48098000-48100600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:48098800-48101000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:48099600-48100400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:48099600-48100400	Enhancers	K562	blood
5	chr21:48100200-48101600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte 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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