Variant report

Variant	rs62217460
Chromosome Location	chr21:39940619-39940620
allele	A/C
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]
rs11701454	1.00[ASN][1000 genomes]
rs16996424	0.93[EUR][1000 genomes]
rs16996425	0.93[EUR][1000 genomes]
rs57780472	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62217465	1.00[ASN][1000 genomes]
rs62219617	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73215997	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv2751930	chr21:39917180-39956061	Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39929000-39946800	Weak transcription	Aorta	Aorta
2	chr21:39940000-39940800	Enhancers	Fetal Muscle Trunk	muscle
3	chr21:39940600-39940800	Enhancers	Gastric	stomach
4	chr21:39940600-39941800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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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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