Variant report

Variant	rs12895642
Chromosome Location	chr14:80901958-80901959
allele	G/T
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]
rs11627541	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12589829	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2115801	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61991561	0.90[AMR][1000 genomes]
rs6574569	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6574570	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574571	0.90[ASN][1000 genomes]
rs6574572	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7144237	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7145950	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7155573	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8016358	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs985233	0.90[AMR][1000 genomes]
rs985754	0.90[AMR][1000 genomes];0.82[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	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
2	esv15289	chr14:80900600-80939903	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80894400-80905600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:80896000-80902000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:80900600-80902000	Enhancers	HMEC	breast
4	chr14:80900800-80902000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:80900800-80902000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:80900800-80902000	Enhancers	NHEK	skin

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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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