Variant report

Variant	rs73315353
Chromosome Location	chr8:119488666-119488667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs3897876	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4131683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58139037	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59768431	0.81[AFR][1000 genomes]
rs60773930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60786064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6985310	0.81[AFR][1000 genomes]
rs7003981	0.81[AFR][1000 genomes]
rs73313493	0.81[AFR][1000 genomes]
rs73313495	0.81[AFR][1000 genomes]
rs73315306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315327	0.81[AFR][1000 genomes]
rs73315332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315346	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315373	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7816941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7817492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7835770	1.00[AFR][1000 genomes];1.00[AMR][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	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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119486200-119488800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:119488000-119489400	Enhancers	Brain Substantia Nigra	brain
3	chr8:119488200-119489600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr8:119488200-119490800	Enhancers	Brain Hippocampus Middle	brain
5	chr8:119488400-119489200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:119488400-119489200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:119488400-119489200	Enhancers	Fetal Muscle Leg	muscle
8	chr8:119488400-119489400	Enhancers	Brain Anterior Caudate	brain
9	chr8:119488400-119489400	Enhancers	Brain Cingulate Gyrus	brain
10	chr8:119488400-119489600	Enhancers	Fetal Brain Male	brain
11	chr8:119488600-119489200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:119488600-119493600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:119488600-119493600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:119488600-119493800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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