Variant report
| Variant | esv2280703 |
|---|---|
| Chromosome Location | chr4:73831069-73831994 |
| 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:36 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs115667116 | chr4:73831084-73831085 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs148907839 | chr4:73831155-73831156 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs143432576 | chr4:73831215-73831216 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs555964950 | chr4:73831232-73831233 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs111966465 | chr4:73831248-73831249 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs115985272 | chr4:73831259-73831260 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs34080573 | chr4:73831266-73831267 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs201432008 | chr4:73831272-73831273 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs147989337 | chr4:73831289-73831290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs560044397 | chr4:73831307-73831308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs563014867 | chr4:73831361-73831362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs78884384 | chr4:73831383-73831384 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs540662724 | chr4:73831419-73831420 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs201455469 | chr4:73831461-73831462 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs34047184 | chr4:73831531-73831532 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs28445236 | chr4:73831546-73831547 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs527423392 | chr4:73831548-73831549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs187341330 | chr4:73831607-73831608 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs563055689 | chr4:73831611-73831612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs548717327 | chr4:73831687-73831688 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs144394564 | chr4:73831689-73831690 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs28657490 | chr4:73831695-73831696 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs191066919 | chr4:73831715-73831716 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs567210487 | chr4:73831740-73831741 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs533511063 | chr4:73831758-73831759 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs28718630 | chr4:73831761-73831762 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 27 | rs28587548 | chr4:73831798-73831799 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs143300535 | chr4:73831820-73831821 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs537964389 | chr4:73831826-73831827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs537967068 | chr4:73831827-73831828 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs182710487 | chr4:73831875-73831876 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs77081803 | chr4:73831907-73831908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs553642854 | chr4:73831924-73831925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs572314425 | chr4:73831929-73831930 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs139238030 | chr4:73831957-73831958 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs550064455 | chr4:73831971-73831972 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:79)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21858162 | 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 |
| Non-small cell lung cancer | 21829676 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Parkinson disease | 21956041 | CNVD |
| Mental retardation | 20522426 | CNVD |
| delayed speech | 20522426 | CNVD |
| growth disorder | 20522426 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Parkinson disease | 18923514 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| 4q-syndrome | 17576883 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Muscular dystrophy | 21149563 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Lung cancer | 19208797 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Osteoporosis | 18992858 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Abnormal phenotypes | 18644119 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Cancer | 22429812 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:73825400-73835600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
