Variant report
| Variant | nsv889990 |
|---|---|
| Chromosome Location | chr8:5242938-5264326 |
| 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 | rs7014774 | chr8:5242938-5242939 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs112816451 | chr8:5242943-5242944 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs533106966 | chr8:5242951-5242952 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs144266099 | chr8:5242956-5242957 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs6995179 | chr8:5242967-5242968 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs537064142 | chr8:5242987-5242988 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs544398861 | chr8:5243000-5243001 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs118171483 | chr8:5243008-5243009 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs7824711 | chr8:5243014-5243015 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs187741645 | chr8:5243029-5243030 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs554440810 | chr8:5243056-5243057 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs572680107 | chr8:5243070-5243071 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs146571533 | chr8:5243085-5243086 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs558443386 | chr8:5243094-5243095 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs576320103 | chr8:5243098-5243099 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs6994195 | chr8:5243099-5243100 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs192912124 | chr8:5243102-5243103 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs561841910 | chr8:5243107-5243108 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs370874291 | chr8:5243114-5243115 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs573834487 | chr8:5243129-5243130 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs12674897 | chr8:5243136-5243137 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs560863498 | chr8:5243149-5243150 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs533174215 | chr8:5243156-5243157 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs189018492 | chr8:5243162-5243163 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs563608345 | chr8:5243210-5243211 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs181655642 | chr8:5243216-5243217 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs549041682 | chr8:5243220-5243221 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs567353240 | chr8:5243228-5243229 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs528224106 | chr8:5243295-5243296 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs80256690 | chr8:5243312-5243313 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs34758354 | chr8:5243314-5243315 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs73659840 | chr8:5243328-5243329 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 33 | rs558124144 | chr8:5243329-5243330 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs11984498 | chr8:5243334-5243335 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 35 | rs184725783 | chr8:5243373-5243374 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs76602287 | chr8:5243386-5243387 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs573773038 | chr8:5243392-5243393 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs189494687 | chr8:5243393-5243394 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs182287594 | chr8:5243415-5243416 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs553447719 | chr8:5243416-5243417 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs562965578 | chr8:5243417-5243418 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs577722644 | chr8:5243423-5243424 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs543019616 | chr8:5243435-5243436 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs200640029 | chr8:5243439-5243440 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs35935991 | chr8:5243447-5243448 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs67608105 | chr8:5243448-5243449 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs79179097 | chr8:5243449-5243450 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs201209841 | chr8:5243451-5243452 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs530861039 | chr8:5243470-5243471 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs542622906 | chr8:5243479-5243480 | Enhancers 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 |
| 2 | chr8:5242600-5243600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 3 | chr8:5244400-5244600 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 4 | chr8:5247600-5248600 | Enhancers | Fetal Brain Male | brain |
| 5 | chr8:5247800-5248200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 6 | chr8:5247800-5248400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 7 | chr8:5248000-5248400 | Enhancers | Fetal Brain Female | brain |
| 8 | chr8:5248000-5248400 | Enhancers | Fetal Muscle Leg | muscle |
| 9 | chr8:5257200-5258800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 10 | chr8:5257800-5258000 | Enhancers | Brain Germinal Matrix | brain |
| 11 | chr8:5258600-5258800 | Enhancers | Brain Germinal Matrix | brain |
