Variant report
| Variant | esv3480400 |
|---|---|
| Chromosome Location | chr8:39511519-39512125 |
| 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:28 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs538406578 | chr8:39511524-39511525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs28693584 | chr8:39511540-39511541 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs115319788 | chr8:39511583-39511584 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs550658268 | chr8:39511586-39511587 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs567985208 | chr8:39511592-39511593 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs141833483 | chr8:39511611-39511612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs7827712 | chr8:39511634-39511635 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs553240625 | chr8:39511640-39511641 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs553578686 | chr8:39511656-39511657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs148101526 | chr8:39511672-39511673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs7844349 | chr8:39511673-39511674 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs113410853 | chr8:39511707-39511708 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs7831283 | chr8:39511719-39511720 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs575603773 | chr8:39511739-39511740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs577770317 | chr8:39511753-39511754 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs564627670 | chr8:39511758-39511759 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs577741361 | chr8:39511762-39511763 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs113010575 | chr8:39511763-39511764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs189304719 | chr8:39511780-39511781 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs529442480 | chr8:39511817-39511818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs547367805 | chr8:39511868-39511869 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs549652392 | chr8:39511878-39511879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs562997586 | chr8:39511879-39511880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs530542454 | chr8:39511887-39511888 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs545107829 | chr8:39511940-39511941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs550276165 | chr8:39511961-39511962 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs557001412 | chr8:39512027-39512028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs192866861 | chr8:39512044-39512045 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:103)
| Disease | PMID | Source |
|---|---|---|
| Prostate cancer | 16573809 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Cancer | 21637783 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 22429812 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Breast cancer | 20940404 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| 8p-syndrome | 17576883 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Cancer | 16751803 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | 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 |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Seminomas | 18059402 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Immune disease | 21572526 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Kallmann Syndrome 2 | 22470819 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Developmental delay | 21373258 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
| Breast cancer | 17001308 | CNVD |
| Breast cancer | 17157792 | CNVD |
| Cancer | 17001308 | CNVD |
| Cancer | 18840272 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Chordoma | 18071362 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21785460 | CNVD |
| abnormal development | 18461090 | CNVD |
| Breast cancer | 16620391 | CNVD |
| Rhabdomyosarcoma | 16790082 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Cancer | 20164920 | CNVD |
| Breast cancer | 20932292 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:39509000-39515800 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
