Variant report

Variant	rs55777714
Chromosome Location	chr21:48097101-48097102
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12483497	0.92[ASN][1000 genomes]
rs12626191	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13048546	0.87[AMR][1000 genomes]
rs13048683	0.88[AMR][1000 genomes]
rs13052824	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2070436	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9979286	0.89[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48091200-48098000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:48091400-48098000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:48096200-48098000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr21:48096200-48098000	Weak transcription	HSMMtube	muscle
5	chr21:48096200-48098800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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