Variant report

Variant	rs8053986
Chromosome Location	chr16:80088236-80088237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12597198	0.91[EUR][1000 genomes]
rs28495719	0.95[EUR][1000 genomes]
rs28499095	0.96[EUR][1000 genomes]
rs28705163	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4077493	0.85[EUR][1000 genomes]
rs4077494	0.84[EUR][1000 genomes]
rs4078328	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs4243200	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4286117	0.88[AFR][1000 genomes]
rs4362404	0.84[EUR][1000 genomes]
rs4441292	0.99[EUR][1000 genomes]
rs4461085	0.81[AFR][1000 genomes]
rs4470161	0.84[EUR][1000 genomes]
rs4533299	0.84[EUR][1000 genomes]
rs4889070	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57575678	0.84[EUR][1000 genomes]
rs8057460	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80081000-80092200	Weak transcription	Right Atrium	heart
2	chr16:80085600-80089400	Weak transcription	Ovary	ovary
3	chr16:80088200-80089400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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