Variant report
| Variant | esv3439160 |
|---|---|
| Chromosome Location | chr4:98201229-98205427 |
| 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:42 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs188568305 | chr4:98201238-98201239 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs191837465 | chr4:98201249-98201250 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs543641588 | chr4:98201258-98201259 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs540626044 | chr4:98201263-98201264 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs543427259 | chr4:98201267-98201268 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs529214635 | chr4:98201274-98201275 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs563786897 | chr4:98201292-98201293 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs559720505 | chr4:98201409-98201410 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs143906571 | chr4:98201412-98201413 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs551891512 | chr4:98201438-98201439 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs569810162 | chr4:98201445-98201446 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs184298923 | chr4:98201446-98201447 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs565409054 | chr4:98201469-98201470 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs561838080 | chr4:98201496-98201497 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs549173221 | chr4:98201507-98201508 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs567483946 | chr4:98201509-98201510 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs188980309 | chr4:98201516-98201517 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs7688316 | chr4:98201537-98201538 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs537409261 | chr4:98201558-98201559 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs539055579 | chr4:98201570-98201571 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs367641606 | chr4:98201616-98201617 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs111283662 | chr4:98201725-98201726 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs369847620 | chr4:98201763-98201764 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs146393462 | chr4:98201764-98201765 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs576210984 | chr4:98201765-98201766 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs543503273 | chr4:98201766-98201767 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs139275923 | chr4:98201769-98201770 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs181896730 | chr4:98201774-98201775 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs149978823 | chr4:98201776-98201777 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs559377888 | chr4:98201780-98201781 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs533409976 | chr4:98201794-98201795 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs187345908 | chr4:98201818-98201819 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs190422362 | chr4:98201855-98201856 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs35957754 | chr4:98201875-98201876 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs75965551 | chr4:98201987-98201988 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs1599660 | chr4:98202008-98202009 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 37 | rs180672247 | chr4:98202018-98202019 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs528659625 | chr4:98202024-98202025 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs567195559 | chr4:98202025-98202026 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs185154212 | chr4:98202030-98202031 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs72889859 | chr4:98202072-98202073 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 42 | rs539276501 | chr4:98202102-98202103 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:77)
| 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 |
| 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 |
| 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Autism | 18414403 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Cancer | 19907438 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 19197363 | CNVD |
| Melanoma | 20688739 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:98200000-98202200 | Enhancers | Dnd41 | blood |
