Variant report

Variant	rs225012
Chromosome Location	chr14:80670735-80670736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1491502	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs170405	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1873551	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs224968	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs224970	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs224971	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs224998	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs225010	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs225011	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs225013	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225016	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs225017	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9919906	0.82[AMR][1000 genomes];0.87[EUR][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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80664800-80677400	Weak transcription	Esophagus	oesophagus
2	chr14:80665600-80677200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:80665800-80674000	Weak transcription	Brain Angular Gyrus	brain
4	chr14:80669600-80673000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:80669800-80674800	Weak transcription	Hela-S3	cervix
6	chr14:80670200-80672200	Weak transcription	A549	lung

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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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