Variant report
| Variant | esv3490693 |
|---|---|
| Chromosome Location | chr4:118809765-118810575 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs577362704 | chr4:118809850-118809851 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs190212400 | chr4:118809902-118809903 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs34570516 | chr4:118809903-118809904 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs116726558 | chr4:118809936-118809937 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs529112915 | chr4:118809965-118809966 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs34087430 | chr4:118809972-118809973 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs201129585 | chr4:118809996-118809997 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542787411 | chr4:118809999-118810000 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs547925950 | chr4:118810200-118810201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs567731862 | chr4:118810222-118810223 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs10015006 | chr4:118810223-118810224 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs556713638 | chr4:118810242-118810243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs185599103 | chr4:118810261-118810262 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs538954146 | chr4:118810291-118810292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs76913404 | chr4:118810406-118810407 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs141098617 | chr4:118810411-118810412 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs143463190 | chr4:118810436-118810437 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs190527708 | chr4:118810540-118810541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs201033637 | chr4:118810545-118810546 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs552715302 | chr4:118810569-118810570 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:70)
| 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 |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Melanoma | 18172304 | 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 |
| Adenoid cystic carcinoma | 18698036 | 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Autism | 19246517 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:118809800-118810000 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 2 | chr4:118810200-118811200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
