Variant report
| Variant | esv3418901 |
|---|---|
| Chromosome Location | chr15:55066629-55067153 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr15:55062888..55065533-chr15:55066470..55069394,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:20 , 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 | rs557834006 | chr15:55066644-55066645 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs578057610 | chr15:55066659-55066660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs187519175 | chr15:55066685-55066686 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs4774706 | chr15:55066688-55066689 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 5 | rs112231041 | chr15:55066692-55066693 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs566296564 | chr15:55066743-55066744 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs191582573 | chr15:55066757-55066758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542023790 | chr15:55066761-55066762 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs562036049 | chr15:55066864-55066865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs371023696 | chr15:55066892-55066893 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs145590575 | chr15:55066923-55066924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs112972569 | chr15:55066934-55066935 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs530681135 | chr15:55066938-55066939 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs2221238 | chr15:55066985-55066986 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs570304554 | chr15:55067006-55067007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs73411768 | chr15:55067008-55067009 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs151312933 | chr15:55067037-55067038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs542118782 | chr15:55067137-55067138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs140553759 | chr15:55067138-55067139 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs555654384 | chr15:55067151-55067152 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| 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 |
| Colorectal cancer | 16774939 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Myeloproliferative neoplasm | 20015882 | 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 |
| Myelofibrosis | 22110671 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Cancer | 17440070 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:55065000-55070200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
