Variant report
| Variant | nsv889961 |
|---|---|
| Chromosome Location | chr8:4439823-4455794 |
| 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 |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs7017584 | chr8:4439823-4439824 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs140051676 | chr8:4439844-4439845 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs565320685 | chr8:4439857-4439858 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs192253210 | chr8:4439892-4439893 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs551292025 | chr8:4439897-4439898 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs552450450 | chr8:4439899-4439900 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs115282250 | chr8:4439902-4439903 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs144530008 | chr8:4439912-4439913 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs148462508 | chr8:4439914-4439915 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs369957736 | chr8:4439916-4439917 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs533637324 | chr8:4439926-4439927 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs373538892 | chr8:4439936-4439937 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs570313553 | chr8:4439945-4439946 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs17070688 | chr8:4439951-4439952 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs151020656 | chr8:4439953-4439954 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs199872752 | chr8:4439968-4439969 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs574391774 | chr8:4439977-4439978 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs536618946 | chr8:4440012-4440013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs554679805 | chr8:4440054-4440055 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs183576468 | chr8:4440096-4440097 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs115558681 | chr8:4440114-4440115 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs565425118 | chr8:4440153-4440154 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs577504108 | chr8:4440171-4440172 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs544823821 | chr8:4440176-4440177 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs563148528 | chr8:4440182-4440183 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs530344258 | chr8:4440183-4440184 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs577878537 | chr8:4440200-4440201 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs548899821 | chr8:4440216-4440217 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs369314131 | chr8:4440235-4440236 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs559874318 | chr8:4440240-4440241 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs527330331 | chr8:4440257-4440258 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs551979216 | chr8:4440262-4440263 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs570218783 | chr8:4440297-4440298 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs566329962 | chr8:4440335-4440336 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs140620046 | chr8:4440336-4440337 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs549585404 | chr8:4440339-4440340 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs567978426 | chr8:4440360-4440361 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs535369605 | chr8:4440364-4440365 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs554061935 | chr8:4440366-4440367 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs573151445 | chr8:4440374-4440375 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs185780156 | chr8:4440379-4440380 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs190384670 | chr8:4440381-4440382 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs577436707 | chr8:4440387-4440388 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs544782884 | chr8:4440409-4440410 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs563059421 | chr8:4440428-4440429 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs575007284 | chr8:4440436-4440437 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs542157821 | chr8:4440442-4440443 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs11775182 | chr8:4440480-4440481 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs560883885 | chr8:4440492-4440493 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs377597955 | chr8:4440505-4440506 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:125)
| 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 |
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:4439200-4440200 | Enhancers | Fetal Heart | heart |
| 2 | chr8:4440200-4440800 | Enhancers | Right Ventricle | heart |
| 3 | chr8:4440200-4444000 | Weak transcription | Fetal Heart | heart |
| 4 | chr8:4444000-4444800 | Enhancers | Fetal Heart | heart |
