Variant report

Variant	rs73262421
Chromosome Location	chr5:147691112-147691113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs59085946	1.00[AFR][1000 genomes]
rs60571666	0.80[AFR][1000 genomes]
rs73262415	1.00[AFR][1000 genomes]
rs73262419	1.00[AFR][1000 genomes]
rs73262464	1.00[AFR][1000 genomes]
rs73262467	1.00[AFR][1000 genomes]
rs73262487	1.00[AFR][1000 genomes]
rs73262488	1.00[AFR][1000 genomes]
rs73264521	1.00[AFR][1000 genomes]
rs73264538	1.00[AFR][1000 genomes]
rs73264579	0.89[AFR][1000 genomes]
rs73264581	0.85[AFR][1000 genomes]
rs73278512	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv883018	chr5:147640718-147691470	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv599945	chr5:147649181-147720487	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:147671800-147693800	Weak transcription	Left Ventricle	heart
2	chr5:147687800-147694000	Weak transcription	Fetal Heart	heart
3	chr5:147689000-147699600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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