Variant report
| Variant | esv3346052 |
|---|---|
| Chromosome Location | chr15:54517270-54517520 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs113965477 | chr15:54517281-54517282 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs146427163 | chr15:54517282-54517283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs58679259 | chr15:54517285-54517286 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs542746485 | chr15:54517288-54517289 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs562422468 | chr15:54517295-54517296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs576061779 | chr15:54517328-54517329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs187098509 | chr15:54517330-54517331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs564829189 | chr15:54517331-54517332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs527589608 | chr15:54517335-54517336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs201991137 | chr15:54517362-54517363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs371089286 | chr15:54517367-54517368 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs61048399 | chr15:54517378-54517379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs78294233 | chr15:54517381-54517382 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs77940666 | chr15:54517382-54517383 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs191132382 | chr15:54517409-54517410 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs554826674 | chr15:54517416-54517417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs7163335 | chr15:54517425-54517426 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs529835955 | chr15:54517444-54517445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs550274823 | chr15:54517446-54517447 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs116224217 | chr15:54517465-54517466 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs537148001 | chr15:54517477-54517478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:61)
| 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 |
| Breast cancer | 21509527 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Melanoma | 20877625 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:54516800-54529000 | Weak transcription | Fetal Lung | lung |
