Variant report
| Variant | esv3499000 |
|---|---|
| Chromosome Location | chr4:28564214-28564653 |
| 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 | rs34502334 | chr4:28564282-28564283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs538665677 | chr4:28564306-28564307 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs558559551 | chr4:28564311-28564312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs575622640 | chr4:28564312-28564313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs370664546 | chr4:28564354-28564355 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs375499209 | chr4:28564399-28564400 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs554469567 | chr4:28564408-28564409 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs574620371 | chr4:28564440-28564441 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs531759216 | chr4:28564443-28564444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs377661335 | chr4:28564452-28564453 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs540046289 | chr4:28564471-28564472 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs559834155 | chr4:28564539-28564540 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs548976153 | chr4:28564569-28564570 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs528546469 | chr4:28564577-28564578 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs192006779 | chr4:28564578-28564579 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs377034748 | chr4:28564594-28564595 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs7690177 | chr4:28564598-28564599 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs202227165 | chr4:28564603-28564604 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs61269019 | chr4:28564610-28564611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs373886176 | chr4:28564611-28564612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs530842078 | chr4:28564635-28564636 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Cancer | 21637783 | CNVD |
| Melanoma | 21693616 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 21183584 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Melanoma | 22183965 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| Cancer | 22183965 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:28559600-28566600 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 2 | chr4:28564200-28564800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
