Variant report

Variant	rs73315332
Chromosome Location	chr8:119485923-119485924
allele	A/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]
rs73315346	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315353	1.00[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119480800-119488400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:119481600-119488000	Weak transcription	Brain Substantia Nigra	brain
3	chr8:119484600-119486000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:119484600-119486000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:119484600-119486000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:119484800-119486000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:119485000-119486000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:119485000-119486000	Enhancers	Hela-S3	cervix
9	chr8:119485000-119486000	Enhancers	NH-A	brain
10	chr8:119485200-119486000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:119485200-119486000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:119485200-119486000	Enhancers	Right Atrium	heart
13	chr8:119485200-119486200	Enhancers	Brain Angular Gyrus	brain
14	chr8:119485200-119486200	Enhancers	Fetal Lung	lung
15	chr8:119485400-119488400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:119485600-119486000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:119485600-119488200	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:119485600-119488200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:119485800-119486000	Enhancers	GM12878-XiMat	blood

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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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