Variant report

Variant	rs72927159
Chromosome Location	chr2:56509238-56509239
allele	C/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:14)

rs_ID	r²[population]
rs10201282	0.84[AMR][1000 genomes]
rs13384514	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13387928	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392111	0.86[AFR][1000 genomes]
rs13403550	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13420635	0.91[AMR][1000 genomes]
rs13421888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13429018	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13431571	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13432878	0.91[AMR][1000 genomes]
rs1477185	0.81[AMR][1000 genomes]
rs2904126	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60143847	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs754102	0.97[AFR][1000 genomes];1.00[AMR][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	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv522006	chr2:56496589-56545845	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv874170	chr2:56496589-56590865	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56488000-56514000	Weak transcription	HSMM	muscle
2	chr2:56503200-56513400	Weak transcription	Muscle Satellite Cultured Cells	--

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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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