Variant report

Variant	rs73400673
Chromosome Location	chr22:30490784-30490785
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:14)

rs_ID	r²[population]
rs56727193	0.86[AFR][1000 genomes]
rs58898724	1.00[AMR][1000 genomes]
rs58967191	0.81[AFR][1000 genomes]
rs58972070	1.00[AMR][1000 genomes]
rs60017483	0.86[AFR][1000 genomes]
rs60615268	0.83[AMR][1000 genomes]
rs73396886	0.81[AFR][1000 genomes]
rs73398636	0.86[AFR][1000 genomes]
rs73398645	0.84[AFR][1000 genomes]
rs73400637	0.83[AFR][1000 genomes]
rs73400695	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402651	1.00[AMR][1000 genomes]
rs73402686	1.00[AMR][1000 genomes]
rs879447	0.80[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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30483800-30493000	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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