Variant report

Variant	rs3017521
Chromosome Location	chr21:28091472-28091473
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2830381	0.82[ASN][1000 genomes]
rs2830384	0.81[ASN][1000 genomes]
rs2830398	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2830410	0.85[EUR][1000 genomes]
rs2830416	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2830417	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2830421	0.86[EUR][1000 genomes]
rs2830422	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2830430	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2830434	0.91[ASN][1000 genomes]
rs2830439	0.86[EUR][1000 genomes]
rs3017522	0.91[ASN][1000 genomes]
rs9974534	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9984497	0.82[ASN][1000 genomes]
rs9984500	0.82[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	nsv459223	chr21:28070037-28092531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv587337	chr21:28070037-28092531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28090000-28091600	Weak transcription	HSMMtube	muscle
2	chr21:28090000-28095400	Weak transcription	Dnd41	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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