Variant report

Variant	rs55866322
Chromosome Location	chr12:58439604-58439605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55802218	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56675346	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57641811	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57931834	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59812561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61054293	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337707	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337724	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339708	0.81[AFR][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	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases
2	nsv899124	chr12:58391839-58883507	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr12:58433200-58439800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:58439400-58440800	Enhancers	Primary monocytes fromperipheralblood	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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