Variant report
| Variant | esv3403130 |
|---|---|
| Chromosome Location | chr11:58273895-58274158 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
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| No data |
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| Variant related genes | Relation type |
|---|---|
| ENSG00000255299 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs559576344 | chr11:58273933-58273934 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs573861752 | chr11:58273934-58273935 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs75053456 | chr11:58273936-58273937 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs548368561 | chr11:58273947-58273948 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs180824650 | chr11:58273984-58273985 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs537131903 | chr11:58274020-58274021 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs35305480 | chr11:58274048-58274049 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs141362264 | chr11:58274061-58274062 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs559748706 | chr11:58274131-58274132 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs184894007 | chr11:58274132-58274133 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs11229505 | chr11:58274155-58274156 | Weak transcription Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:51)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 21637783 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Chronic lymphocytic leukemia | 21795749 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Pituitary adenoma | 18645599 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Smith-Lemli-Opitz syndrome | 21572526 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Cancer | 16751803 | CNVD |
| Seminomas | 18059402 | CNVD |
| Autism | 22495309 | CNVD |
| Autism | 20808228 | CNVD |
| Melanoma | 17363583 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:58262600-58274800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 2 | chr11:58266800-58274800 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
| 3 | chr11:58266800-58278600 | Weak transcription | Primary T helper cells fromperipheralblood | blood |
| 4 | chr11:58266800-58278800 | Weak transcription | Primary T helper naive cells fromperipheralblood | blood |
| 5 | chr11:58267000-58279600 | Weak transcription | Primary T cells fromperipheralblood | blood |
| 6 | chr11:58269400-58277200 | Weak transcription | Primary T regulatory cells fromperipheralblood | blood |
| 7 | chr11:58271000-58276400 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 8 | chr11:58273400-58275200 | Enhancers | GM12878-XiMat | blood |
