Variant report
| Variant | esv3422912 |
|---|---|
| Chromosome Location | chr15:49680033-49680616 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs555135022 | chr15:49680054-49680055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs142034409 | chr15:49680070-49680071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs537525228 | chr15:49680106-49680107 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs555772825 | chr15:49680110-49680111 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs577580824 | chr15:49680123-49680124 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs544961011 | chr15:49680228-49680229 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs553951579 | chr15:49680237-49680238 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs12708418 | chr15:49680251-49680252 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs572656141 | chr15:49680324-49680325 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs375744233 | chr15:49680355-49680356 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs543282125 | chr15:49680364-49680365 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs150687798 | chr15:49680381-49680382 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs531878500 | chr15:49680415-49680416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs139711251 | chr15:49680497-49680498 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs565354662 | chr15:49680523-49680524 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs13379615 | chr15:49680544-49680545 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs182093877 | chr15:49680560-49680561 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs566693961 | chr15:49680577-49680578 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| 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 |
| Breast cancer | 21785460 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | 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 |
| Myelofibrosis | 22110671 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Aromatase excess syndrome | 21470988 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:49673800-49683400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr15:49676400-49683600 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 3 | chr15:49676600-49683400 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr15:49676800-49683000 | Weak transcription | H9 Cell Line | embryonic stem cell |
