Variant report

Variant	rs118189563
Chromosome Location	chr21:48099610-48099611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48098000-48099800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr21:48098000-48100600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr21:48098800-48101000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:48099600-48099800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr21:48099600-48100400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:48099600-48100400	Enhancers	K562	blood

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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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