Variant report
| Variant | nsv889902 |
|---|---|
| Chromosome Location | chr8:3455838-3474090 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs2469347 | chr8:3462800-3462801 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs555294163 | chr8:3462809-3462810 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs2449168 | chr8:3462810-3462811 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs377364471 | chr8:3462811-3462812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs559363274 | chr8:3462824-3462825 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs374057528 | chr8:3462828-3462829 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs34922954 | chr8:3462829-3462830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs562340236 | chr8:3462833-3462834 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs188531873 | chr8:3462838-3462839 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs545074302 | chr8:3462849-3462850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs7826633 | chr8:3462864-3462865 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs142033561 | chr8:3462867-3462868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs7842233 | chr8:3462875-3462876 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs192903979 | chr8:3462888-3462889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs543645736 | chr8:3462901-3462902 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs183008880 | chr8:3462913-3462914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs77264045 | chr8:3462914-3462915 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs186493475 | chr8:3462918-3462919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs7843402 | chr8:3462922-3462923 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs113868188 | chr8:3462923-3462924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs191341275 | chr8:3462941-3462942 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs75853324 | chr8:3462957-3462958 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs183726373 | chr8:3462969-3462970 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs150690504 | chr8:3463001-3463002 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs117906663 | chr8:3463002-3463003 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs139946577 | chr8:3463006-3463007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs367887194 | chr8:3463007-3463008 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs189265909 | chr8:3463022-3463023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs534460197 | chr8:3463038-3463039 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs115277149 | chr8:3463042-3463043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs536262814 | chr8:3463043-3463044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs577561856 | chr8:3463048-3463049 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs386721066 | chr8:3463057-3463058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs2449167 | chr8:3463059-3463060 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 35 | rs112067618 | chr8:3463076-3463077 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs77629294 | chr8:3463088-3463089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs371494434 | chr8:3463102-3463103 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs193142903 | chr8:3463142-3463143 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs538175966 | chr8:3463143-3463144 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs528402002 | chr8:3463144-3463145 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs368422878 | chr8:3463145-3463146 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs548061733 | chr8:3463149-3463150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs117017496 | chr8:3463162-3463163 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs564987034 | chr8:3463198-3463199 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs375560300 | chr8:3463200-3463201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs577957449 | chr8:3463201-3463202 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs367670159 | chr8:3463203-3463204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs569341103 | chr8:3463204-3463205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs530109922 | chr8:3463215-3463216 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs375676833 | chr8:3463219-3463220 | 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 |
| 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 |
| Ovarian cancer | 22355333 | 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 |
| Schizophrenia | 19805367 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Colorectal cancer | 22014273 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| Cancer | 20164919 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:3462800-3464600 | Weak transcription | Fetal Heart | heart |
| 2 | chr8:3464600-3465400 | Enhancers | Fetal Heart | heart |
| 3 | chr8:3471800-3479800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
