Variant report

Variant	rs9978023
Chromosome Location	chr21:17316021-17316022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12626998	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs372862	0.95[ASN][1000 genomes]
rs401710	0.94[ASN][1000 genomes]
rs407921	0.90[ASN][1000 genomes]
rs409460	0.95[ASN][1000 genomes]
rs418236	0.93[ASN][1000 genomes]
rs442208	0.91[ASN][1000 genomes]
rs443169	0.91[ASN][1000 genomes]
rs443823	0.89[ASN][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	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv964543	chr21:17296262-17338385	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17315400-17316200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr21:17315400-17316200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr21:17315800-17316200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr21:17316000-17316200	Enhancers	A549	lung
5	chr21:17316000-17318600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:17316000-17319200	Weak transcription	H9 Derived Neuron 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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