Variant report
| Variant | esv3493418 |
|---|---|
| Chromosome Location | chr15:59996817-59997007 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs577456751 | chr15:59996855-59996856 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs146503817 | chr15:59996866-59996867 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs67356614 | chr15:59996906-59996907 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs62012494 | chr15:59996910-59996911 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs11629813 | chr15:59996914-59996915 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs560865563 | chr15:59996980-59996981 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs17191002 | chr15:59997007-59997008 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:60)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| cataract | 16735990 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| spastic paraplegia with thinning of corpus callosum | 19105190 | CNVD |
| Schizophrenia | 21324950 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Disease | 21824424 | CNVD |
| Melanoma | 18172304 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Cancer | 21129771 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Abnormal phenotypes | 18644119 | CNVD |
| Cancer | 16751803 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Congenital diaphragmatic hernia | 21341218 | CNVD |
| Holoprosencephaly | 21359414 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Adenocarcinoma | 19607727 | CNVD |
| Squamous cell cancer | 19607727 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:59989800-59998400 | Enhancers | Hela-S3 | cervix |
| 2 | chr15:59993000-59998000 | Weak transcription | HMEC | breast |
| 3 | chr15:59994400-59997800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 4 | chr15:59996400-59997400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 5 | chr15:59996600-59997800 | Weak transcription | A549 | lung |
| 6 | chr15:59996800-59997000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 7 | chr15:59996800-59997000 | Enhancers | NHEK | skin |
