Variant report
| Variant | esv2421769 |
|---|---|
| Chromosome Location | chr15:53784991-53785483 |
| 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 | rs35247032 | chr15:53785022-53785023 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs201591739 | chr15:53785029-53785030 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs546119418 | chr15:53785031-53785032 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs559829350 | chr15:53785051-53785052 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs573261125 | chr15:53785064-53785065 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs542372678 | chr15:53785069-53785070 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs79771369 | chr15:53785071-53785072 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs150299692 | chr15:53785074-53785075 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs144868918 | chr15:53785078-53785079 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs12907692 | chr15:53785134-53785135 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs564653343 | chr15:53785159-53785160 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs373367907 | chr15:53785176-53785177 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs374811961 | chr15:53785206-53785207 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs533492095 | chr15:53785262-53785263 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs149012976 | chr15:53785264-53785265 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs78598872 | chr15:53785329-53785330 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs145865288 | chr15:53785386-53785387 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs181279456 | chr15:53785387-53785388 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs34368013 | chr15:53785453-53785454 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs186744051 | chr15:53785454-53785455 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs12595143 | chr15:53785483-53785484 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:57)
| 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 |
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:53780200-53785000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr15:53784800-53786800 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr15:53785000-53785200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
