Variant report

Variant	rs73329579
Chromosome Location	chr8:125225777-125225778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16899525	1.00[EUR][1000 genomes]
rs16899596	1.00[EUR][1000 genomes]
rs2077438	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28634212	1.00[EUR][1000 genomes]
rs4415292	1.00[EUR][1000 genomes]
rs6990083	1.00[EUR][1000 genomes]
rs73330395	1.00[EUR][1000 genomes]
rs73332134	1.00[EUR][1000 genomes]
rs73332141	1.00[EUR][1000 genomes]
rs73332200	1.00[EUR][1000 genomes]
rs73333903	1.00[EUR][1000 genomes]
rs73333907	1.00[EUR][1000 genomes]
rs73333978	1.00[EUR][1000 genomes]
rs73333982	1.00[EUR][1000 genomes]
rs73333983	1.00[EUR][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	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv891429	chr8:125163219-125246937	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125216400-125240200	Weak transcription	Left Ventricle	heart
2	chr8:125221000-125225800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:125223600-125232800	Weak transcription	Brain Germinal Matrix	brain
4	chr8:125224200-125226400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:125224200-125230400	Weak transcription	Fetal Lung	lung
6	chr8:125224600-125226200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:125224600-125226800	Enhancers	HUVEC	blood vessel
8	chr8:125225000-125226000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:125225000-125226200	Enhancers	NH-A	brain
10	chr8:125225000-125226200	Enhancers	Osteobl	bone
11	chr8:125225000-125226600	Enhancers	NHDF-Ad	bronchial
12	chr8:125225000-125226800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:125225600-125226600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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