Variant report
| Variant | esv3364034 |
|---|---|
| Chromosome Location | chr15:33723219-33723529 |
| 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:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs372914130 | chr15:33723237-33723238 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs191868522 | chr15:33723361-33723362 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs28568622 | chr15:33723397-33723398 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs548898461 | chr15:33723408-33723409 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs561180526 | chr15:33723443-33723444 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs34192128 | chr15:33723455-33723456 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs528528082 | chr15:33723470-33723471 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs183720869 | chr15:33723476-33723477 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs571281902 | chr15:33723483-33723484 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs566117153 | chr15:33723492-33723493 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs550989063 | chr15:33723504-33723505 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs149794499 | chr15:33723521-33723522 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| Disease | PMID | Source |
|---|---|---|
| HDAC8 | 0 | CNVD |
| NIPBL | 0 | CNVD |
| RAD21 | 0 | CNVD |
| SMC1A | 0 | CNVD |
| SMC3 | 0 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Angelman syndrome | 16183798 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | 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 |
| Hodgkin''s lymphoma | 18641027 | 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 |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Breast cancer | 17133270 | 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 |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Abnormal corpus callosum | 21572526 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Autism | 19204725 | CNVD |
| Schizophrenia | 19204725 | CNVD |
| Schizophrenia | 19149910 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Legius syndrome | 19443465 | CNVD |
| Holoprosencephaly | 21359414 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Prader-willi syndrome | 21504564 | CNVD |
| Cancer | 17440070 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:33717200-33733200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 2 | chr15:33721000-33724600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 3 | chr15:33723000-33724200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
