Variant report

Variant	rs2126715
Chromosome Location	chr4:54595666-54595667
allele	A/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:16)

rs_ID	r²[population]
rs1382083	0.84[EUR][1000 genomes]
rs2169647	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2245157	0.84[EUR][1000 genomes]
rs2590776	0.84[EUR][1000 genomes]
rs2590828	0.81[EUR][1000 genomes]
rs2590830	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2590831	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2590832	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2616397	0.80[EUR][1000 genomes]
rs2616406	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2616408	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2616413	0.84[EUR][1000 genomes]
rs2616414	0.84[EUR][1000 genomes]
rs59445919	0.81[EUR][1000 genomes]
rs62323723	0.88[AMR][1000 genomes]
rs73250987	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv15357	chr4:54591392-54603209	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region lncRNA	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	chr4:54584000-54600000	Weak transcription	Osteobl	bone
2	chr4:54595600-54596600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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