Variant report

Variant	rs28543044
Chromosome Location	chr3:46303354-46303355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10049113	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13433751	1.00[AMR][1000 genomes]
rs17141103	1.00[AMR][1000 genomes]
rs1800945	1.00[AMR][1000 genomes]
rs28361974	1.00[AMR][1000 genomes]
rs28366811	1.00[AMR][1000 genomes]
rs28483827	1.00[AMR][1000 genomes]
rs28620009	1.00[AMR][1000 genomes]
rs3918377	1.00[AMR][1000 genomes]
rs41485850	1.00[AMR][1000 genomes]
rs4987124	1.00[AMR][1000 genomes]
rs9830751	1.00[AMR][1000 genomes]
rs9840685	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9842607	1.00[AMR][1000 genomes]
rs9856343	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9861910	0.83[AFR][1000 genomes]
rs9873805	1.00[AMR][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46303200-46303400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:46303200-46303400	Enhancers	Lung	lung
3	chr3:46303200-46303600	Enhancers	Adipose Derived Mesenchymal Stem Cell 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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