Variant report

Variant	rs60558485
Chromosome Location	chr14:80222831-80222832
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10137829	0.86[ASN][1000 genomes]
rs10140701	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10142357	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050371	0.85[ASN][1000 genomes]
rs28641573	0.84[ASN][1000 genomes]
rs28714674	0.84[ASN][1000 genomes]
rs28724578	0.84[ASN][1000 genomes]
rs4492976	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60327461	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61992428	0.84[ASN][1000 genomes]
rs6574522	0.84[ASN][1000 genomes]
rs7143833	0.84[ASN][1000 genomes]
rs8010965	0.84[ASN][1000 genomes]
rs8020629	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80171400-80232800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80212800-80230000	Weak transcription	Aorta	Aorta
3	chr14:80221400-80223200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:80222200-80223600	Enhancers	Fetal Lung	lung
5	chr14:80222600-80223000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:80222600-80223400	Enhancers	Brain Substantia Nigra	brain
7	chr14:80222800-80223400	Enhancers	Brain Hippocampus Middle	brain

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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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