Variant report

Variant	rs820539
Chromosome Location	chr3:112452531-112452532
allele	A/G
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:6)

rs_ID	r²[population]
rs1249922	1.00[AMR][1000 genomes]
rs1706450	1.00[AMR][1000 genomes]
rs2633967	1.00[AMR][1000 genomes]
rs35907597	1.00[AMR][1000 genomes]
rs820538	1.00[AMR][1000 genomes]
rs864238	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112451200-112452600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:112451400-112452600	Weak transcription	HMEC	breast
3	chr3:112451400-112453000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:112451600-112452600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:112451600-112452600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:112451800-112453200	Weak transcription	Placenta	Placenta
7	chr3:112452200-112453600	Enhancers	NHEK	skin

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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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