Variant report
| Variant | esv9129 |
|---|---|
| Chromosome Location | chr4:166467833-166468637 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:166463048..166465958-chr4:166466344..166468402,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs563421160 | chr4:166468413-166468414 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs35689758 | chr4:166468422-166468423 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs149463828 | chr4:166468444-166468445 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs76758459 | chr4:166468445-166468446 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs377652899 | chr4:166468446-166468447 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs74871533 | chr4:166468461-166468462 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs34133281 | chr4:166468465-166468466 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs530750859 | chr4:166468511-166468512 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs552060984 | chr4:166468520-166468521 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs541921931 | chr4:166468523-166468524 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs533303426 | chr4:166468542-166468543 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs35727733 | chr4:166468549-166468550 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs543709711 | chr4:166468563-166468564 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs181719793 | chr4:166468588-166468589 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs115370071 | chr4:166468604-166468605 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs17046695 | chr4:166468609-166468610 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:72)
| 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 |
| 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 |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | 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 |
| Lung cancer | 18438408 | CNVD |
| Cancer | 22429812 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Breast cancer | 17133270 | 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 |
| Testicular germ cell tumor | 18059402 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Breast cancer | 21633010 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20581869 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| intellectual deficit | 22127048 | CNVD |
| abnormal development | 18461090 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:166468400-166468600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 2 | chr4:166468600-166469000 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 3 | chr4:166468600-166469200 | Enhancers | Primary T killer memory cells from peripheral blood | blood |
