Variant report
| Variant | esv3362595 |
|---|---|
| Chromosome Location | chr15:55103791-55103901 |
| 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 | chr15:55102625..55104319-chr15:55107510..55110116,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:10 , 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 | rs535435238 | chr15:55103805-55103806 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs184714195 | chr15:55103811-55103812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs28679735 | chr15:55103812-55103813 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs550028945 | chr15:55103817-55103818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs374246890 | chr15:55103825-55103826 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs201750779 | chr15:55103875-55103876 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs569738248 | chr15:55103876-55103877 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs535710038 | chr15:55103885-55103886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs375827183 | chr15:55103900-55103901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs1501382 | chr15:55103901-55103902 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | 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 | chr15:55097200-55105800 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 2 | chr15:55100400-55106800 | Weak transcription | Aorta | Aorta |
