Variant report

Variant	rs312519
Chromosome Location	chr4:125430165-125430166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10857101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1155357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1492748	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1492752	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17008322	0.83[AMR][1000 genomes]
rs1873772	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs219848	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28592204	0.83[AMR][1000 genomes]
rs28668989	0.83[AMR][1000 genomes]
rs28730460	0.83[AMR][1000 genomes]
rs312507	0.85[AFR][1000 genomes]
rs312513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs312515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs312516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73845363	0.83[AMR][1000 genomes]
rs9992551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv879880	chr4:125174817-125494547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2760890	chr4:125273456-125466931	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv879881	chr4:125280852-125448288	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv268986	chr4:125430164-125430165	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125423200-125430400	Weak transcription	Liver	Liver
2	chr4:125429000-125430600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	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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