Variant report

Variant	rs12437279
Chromosome Location	chr14:80673242-80673243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12588985	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1388385	0.86[AMR][1000 genomes]
rs1491504	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs225014	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225015	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903903	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4903905	0.82[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	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:10 , 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	chr14:80669800-80674800	Weak transcription	Hela-S3	cervix
5	chr14:80672800-80674000	Enhancers	Brain Hippocampus Middle	brain
6	chr14:80672800-80674600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:80673000-80673400	Enhancers	Brain Germinal Matrix	brain
8	chr14:80673000-80674400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:80673200-80673800	Genic enhancers	A549	lung
10	chr14:80673200-80674400	Enhancers	H1 Derived Neuronal Progenitor 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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