Variant report

Variant	rs73329581
Chromosome Location	chr8:125226138-125226139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10106094	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109751	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16899450	1.00[EUR][1000 genomes]
rs28459835	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28504426	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28613347	1.00[EUR][1000 genomes]
rs28618989	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57363865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73329564	1.00[EUR][1000 genomes]
rs73329572	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73332169	1.00[EUR][1000 genomes]
rs73332171	1.00[EUR][1000 genomes]
rs73332188	1.00[EUR][1000 genomes]
rs73332193	1.00[EUR][1000 genomes]
rs73333906	1.00[EUR][1000 genomes]
rs73333919	1.00[EUR][1000 genomes]
rs73333922	1.00[EUR][1000 genomes]
rs73337905	1.00[EUR][1000 genomes]
rs73343183	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	chr8:125223600-125232800	Weak transcription	Brain Germinal Matrix	brain
3	chr8:125224200-125226400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:125224200-125230400	Weak transcription	Fetal Lung	lung
5	chr8:125224600-125226200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:125224600-125226800	Enhancers	HUVEC	blood vessel
7	chr8:125225000-125226200	Enhancers	NH-A	brain
8	chr8:125225000-125226200	Enhancers	Osteobl	bone
9	chr8:125225000-125226600	Enhancers	NHDF-Ad	bronchial
10	chr8:125225000-125226800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:125225600-125226600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:125225800-125226200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:125226000-125226400	Enhancers	NHLF	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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