Variant report
| Variant | esv1976956 |
|---|---|
| Chromosome Location | chr8:5241308-5241685 |
| 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:44 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs145161245 | chr8:5241334-5241335 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs572895054 | chr8:5241336-5241337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs60860045 | chr8:5241341-5241342 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs75964471 | chr8:5241370-5241371 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs540503138 | chr8:5241390-5241391 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs189260031 | chr8:5241400-5241401 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs181861297 | chr8:5241428-5241429 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs149170935 | chr8:5241433-5241434 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs377149252 | chr8:5241457-5241458 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs562440542 | chr8:5241463-5241464 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs529837259 | chr8:5241477-5241478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs549148725 | chr8:5241478-5241479 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs568949629 | chr8:5241482-5241483 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs113682959 | chr8:5241494-5241495 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs111767419 | chr8:5241497-5241498 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs112508732 | chr8:5241500-5241501 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs567493447 | chr8:5241501-5241502 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs189731577 | chr8:5241508-5241509 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs370529274 | chr8:5241509-5241510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs62495396 | chr8:5241520-5241521 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs367821911 | chr8:5241521-5241522 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs113714102 | chr8:5241526-5241527 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs546849728 | chr8:5241527-5241528 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs141791709 | chr8:5241534-5241535 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs538656572 | chr8:5241537-5241538 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs60202600 | chr8:5241545-5241546 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 27 | rs62495397 | chr8:5241547-5241548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs138132697 | chr8:5241559-5241560 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs569239118 | chr8:5241568-5241569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs182859942 | chr8:5241574-5241575 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs375383960 | chr8:5241579-5241580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs368722751 | chr8:5241582-5241583 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs186188254 | chr8:5241589-5241590 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs112019325 | chr8:5241605-5241606 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs372398881 | chr8:5241631-5241632 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs555120421 | chr8:5241634-5241635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs375638839 | chr8:5241638-5241639 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs113520815 | chr8:5241642-5241643 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs112935809 | chr8:5241645-5241646 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs113519600 | chr8:5241648-5241649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs7838194 | chr8:5241660-5241661 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 42 | rs28557321 | chr8:5241673-5241674 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 43 | rs558838996 | chr8:5241675-5241676 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs191384350 | chr8:5241680-5241681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:124)
| 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 |
| 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 |
| 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 |
| Breast cancer | 21364760 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Lung squamous cell carcinoma | 22363434 | 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 |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Type 2 diabetes | 21526130 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:5229400-5244400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
