Variant report

Variant	rs72678157
Chromosome Location	chr8:119557138-119557139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10101026	0.94[EUR][1000 genomes]
rs16891204	0.94[EUR][1000 genomes]
rs55791185	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56006234	0.94[EUR][1000 genomes]
rs56123443	0.89[AMR][1000 genomes]
rs57416344	0.92[EUR][1000 genomes]
rs7015718	0.94[EUR][1000 genomes]
rs72678158	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72678163	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72678164	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv6362	chr8:119554736-119599269	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119550600-119558800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:119550800-119558200	Weak transcription	Left Ventricle	heart
3	chr8:119554000-119560200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:119555400-119558400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:119555400-119558400	Weak transcription	Aorta	Aorta
6	chr8:119555600-119560600	Weak transcription	GM12878-XiMat	blood
7	chr8:119556200-119557400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:119556400-119557200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:119556400-119557200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:119556600-119558400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:119556600-119560800	Enhancers	Fetal Heart	heart
12	chr8:119556800-119557400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:119556800-119558400	Weak transcription	NHDF-Ad	bronchial
14	chr8:119556800-119559000	Weak transcription	Brain Angular Gyrus	brain
15	chr8:119557000-119557200	Enhancers	Fetal Lung	lung
16	chr8:119557000-119559800	Enhancers	Fetal Brain Male	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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