Variant report

Variant	rs1716422
Chromosome Location	chr12:124588179-124588180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10846602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10846605	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2451320	1.00[AMR][1000 genomes]
rs448623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs530382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488919	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs694119	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs707337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957701	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825495	1.00[AMR][1000 genomes]
rs825496	1.00[AMR][1000 genomes]
rs825502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs862221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs866641	0.87[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	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv520633	chr12:124548394-124683205	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr12:124568600-124592000	Weak transcription	Right Atrium	heart

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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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