Variant report

Variant	rs73236486
Chromosome Location	chr5:112762607-112762608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1116546	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17135496	1.00[AMR][1000 genomes]
rs17135585	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17135602	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241728	0.96[AFR][1000 genomes]
rs73250473	0.85[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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112761000-112763000	Enhancers	HMEC	breast
2	chr5:112761000-112763400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112761400-112764400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:112761400-112764800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:112762000-112786000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:112762400-112763800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:112762600-112764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:112762600-112764800	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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