Variant report
| Variant | esv3393290 |
|---|---|
| Chromosome Location | chr4:124937747-124938022 |
| 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 | rs535211307 | chr4:124937763-124937764 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs1401531 | chr4:124937764-124937765 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs1401530 | chr4:124937781-124937782 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs537514503 | chr4:124937798-124937799 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs1401529 | chr4:124937884-124937885 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs577142241 | chr4:124937924-124937925 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs146242608 | chr4:124937949-124937950 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs1401528 | chr4:124937953-124937954 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs72915192 | chr4:124937973-124937974 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs563087191 | chr4:124937993-124937994 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs377520006 | chr4:124938000-124938001 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs541614759 | chr4:124938008-124938009 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:73)
| 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 |
| Breast cancer | 21858162 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal squamous carcinoma | 18350619 | 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 |
| Lung cancer | 19208797 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Cancer | 22429812 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 21183584 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:124935200-124938400 | Weak transcription | NHDF-Ad | bronchial |
| 2 | chr4:124935400-124941400 | Weak transcription | Aorta | Aorta |
| 3 | chr4:124935600-124939800 | Weak transcription | Esophagus | oesophagus |
| 4 | chr4:124937000-124940000 | Enhancers | Stomach Mucosa | stomach |
| 5 | chr4:124937200-124938000 | Weak transcription | Fetal Intestine Large | intestine |
| 6 | chr4:124937200-124938400 | Enhancers | Fetal Intestine Small | intestine |
| 7 | chr4:124938000-124938800 | Enhancers | Fetal Intestine Large | intestine |
