Variant report
| Variant | esv3386040 |
|---|---|
| Chromosome Location | chr8:63663824-63664380 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs573852613 | chr8:63663882-63663883 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs544194255 | chr8:63663897-63663898 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs556456084 | chr8:63663932-63663933 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs575690007 | chr8:63664004-63664005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs546270050 | chr8:63664019-63664020 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs542791014 | chr8:63664056-63664057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs569273022 | chr8:63664082-63664083 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs375115054 | chr8:63664092-63664093 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs564564066 | chr8:63664127-63664128 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs138198315 | chr8:63664134-63664135 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs540790451 | chr8:63664139-63664140 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs143737818 | chr8:63664176-63664177 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs562157273 | chr8:63664190-63664191 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs529521897 | chr8:63664221-63664222 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs550967478 | chr8:63664233-63664234 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs555087532 | chr8:63664236-63664237 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs147180205 | chr8:63664276-63664277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs6996757 | chr8:63664278-63664279 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs148252933 | chr8:63664299-63664300 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs553644259 | chr8:63664320-63664321 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs577067841 | chr8:63664365-63664366 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs143586853 | chr8:63664373-63664374 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs3032932 | chr8:63664374-63664375 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:97)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 16751803 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Seminomas | 18059402 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Cancer | 20164919 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| abnormal development | 18461090 | CNVD |
| Cancer | 20164920 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Langer-Giedion syndrome | 22283845 | CNVD |
| Cancer | 21637783 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Cancer | 22429812 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Breast cancer | 22028636 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| head and neck squamous cell carcinoma | 18028549 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Melanoma | 22183965 | CNVD |
| Cancer | 21949371 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Acute myeloid leukemia | 21358987 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Sezary syndrome | 18413736 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:63662600-63664000 | Strong transcription | Brain Germinal Matrix | brain |
| 2 | chr8:63663600-63669800 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
| 3 | chr8:63664000-63665600 | Weak transcription | Brain Germinal Matrix | brain |
