Variant report

Variant	rs1457990
Chromosome Location	chr14:82778603-82778604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1118196	0.88[EUR][1000 genomes]
rs12879777	0.85[EUR][1000 genomes]
rs12893883	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs1457987	0.80[AFR][1000 genomes]
rs1457991	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1457992	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2219410	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34536012	0.88[EUR][1000 genomes]
rs709903	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs799108	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs799111	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs799112	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs8004387	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8004493	0.92[AFR][1000 genomes];0.96[AMR][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	nsv1052666	chr14:82069162-83028382	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv902123	chr14:82778603-82876504	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	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	chr14:82778200-82778800	Enhancers	Brain Germinal Matrix	brain
2	chr14:82778200-82780400	Weak transcription	hESC Derived CD184+ Endoderm 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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