Variant report
| Variant | esv2352774 |
|---|---|
| Chromosome Location | chr8:3912843-3913292 |
| 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 | rs568377387 | chr8:3912854-3912855 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs6982198 | chr8:3912861-3912862 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs201376359 | chr8:3912872-3912873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs553756055 | chr8:3912884-3912885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs7001863 | chr8:3912898-3912899 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs539560158 | chr8:3912905-3912906 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs377400663 | chr8:3912923-3912924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs557576260 | chr8:3912926-3912927 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs138254516 | chr8:3912940-3912941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs117562788 | chr8:3912948-3912949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs113980452 | chr8:3912971-3912972 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs200934111 | chr8:3912981-3912982 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs142563180 | chr8:3912982-3912983 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs555625250 | chr8:3913023-3913024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs574024020 | chr8:3913042-3913043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs541026109 | chr8:3913044-3913045 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs180766768 | chr8:3913054-3913055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs149611303 | chr8:3913057-3913058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs183748570 | chr8:3913060-3913061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs545440686 | chr8:3913066-3913067 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs562984061 | chr8:3913069-3913070 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs563650714 | chr8:3913073-3913074 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs141484383 | chr8:3913082-3913083 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs190343576 | chr8:3913091-3913092 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs182582989 | chr8:3913093-3913094 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs565421085 | chr8:3913094-3913095 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs528028823 | chr8:3913099-3913100 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs143357780 | chr8:3913118-3913119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs148376436 | chr8:3913129-3913130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs565630105 | chr8:3913132-3913133 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs539065684 | chr8:3913138-3913139 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs557799073 | chr8:3913167-3913168 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs540542186 | chr8:3913196-3913197 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs573337158 | chr8:3913210-3913211 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs569446419 | chr8:3913213-3913214 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs537224595 | chr8:3913222-3913223 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs555586247 | chr8:3913248-3913249 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs573983288 | chr8:3913249-3913250 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs541668403 | chr8:3913254-3913255 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs116715852 | chr8:3913276-3913277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs142287398 | chr8:3913281-3913282 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs187183639 | chr8:3913288-3913289 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:126)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| abnormal development | 18461090 | CNVD |
| Crohn''s disease | 19220326 | CNVD |
| Psoriasis | 19220326 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Prostate cancer | 18515986 | CNVD |
| Chronic obstructive pulmonary disease | 20378733 | CNVD |
| Autism | 18414403 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Cervical cancer | 17311676 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Schizophrenia | 20877625 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Heart disease | 21282601 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | 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 |
| Oral cancer | 21386901 | CNVD |
| Prostate cancer | 21088497 | 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 |
| 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 |
| 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 |
| Breast cancer | 21785460 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Breast cancer | 21509527 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Epilepsy | 22083797 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Congenital diaphragmatic hernia | 21064195 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20164920 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Developmental delay | 19128483 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Leukoplakia | 24403051 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Seminomas | 18059402 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Colorectal cancer | 22014273 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Cancer | 20164919 | CNVD |
| Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Tetralogy of Fallot | 22912587 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:3909000-3922000 | Weak transcription | H9 Cell Line | embryonic stem cell |
