Variant report

Variant	rs28479390
Chromosome Location	chr21:39931757-39931758
allele	A/G
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]
rs10483047	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12329687	0.91[EUR][1000 genomes]
rs2836491	0.80[EUR][1000 genomes]
rs2836493	0.81[EUR][1000 genomes]
rs2836496	0.91[EUR][1000 genomes]
rs2836505	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836522	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28477632	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4816598	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9808818	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9975915	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9978340	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9979462	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9980455	0.81[EUR][1000 genomes]
rs9981003	0.81[EUR][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	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
2	nsv3516	chr21:39928540-39936213	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39911200-39935200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:39929000-39946800	Weak transcription	Aorta	Aorta

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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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