Variant report

Variant	rs73252719
Chromosome Location	chr5:112731609-112731610
allele	G/T
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:16)

rs_ID	r²[population]
rs55668675	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55834943	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55892914	1.00[AMR][1000 genomes]
rs56096608	1.00[AMR][1000 genomes]
rs57288647	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59926560	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6594694	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73236450	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73236472	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73236475	1.00[AMR][1000 genomes]
rs73241741	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244751	1.00[AMR][1000 genomes]
rs73252716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73779023	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73779058	1.00[AMR][1000 genomes]
rs73781526	0.90[AFR][1000 genomes];1.00[AMR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112724400-112751200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:112730200-112738200	Weak transcription	HMEC	breast
3	chr5:112731600-112731800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:112731600-112731800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:112731600-112731800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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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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