Variant report
| Variant | esv3529366 |
|---|---|
| Chromosome Location | chr8:1340295-1356793 |
| 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 | rs191589296 | chr8:1340311-1340312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs184414157 | chr8:1340315-1340316 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs375500066 | chr8:1340323-1340324 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs77100660 | chr8:1340332-1340333 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs17827850 | chr8:1340335-1340336 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs189694842 | chr8:1340346-1340347 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs181171990 | chr8:1340351-1340352 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs570831232 | chr8:1340352-1340353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs7825988 | chr8:1340364-1340365 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs185230117 | chr8:1340387-1340388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs6558464 | chr8:1340428-1340429 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs188780190 | chr8:1340430-1340431 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs542466011 | chr8:1340432-1340433 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs558243011 | chr8:1340437-1340438 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs576180878 | chr8:1340448-1340449 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs569545959 | chr8:1340461-1340462 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs141849875 | chr8:1340465-1340466 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs150680176 | chr8:1340477-1340478 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs577600022 | chr8:1340490-1340491 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs543523933 | chr8:1340491-1340492 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs553956556 | chr8:1340494-1340495 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs7017774 | chr8:1340507-1340508 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs7017920 | chr8:1340524-1340525 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs562607694 | chr8:1340535-1340536 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs545377659 | chr8:1340547-1340548 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs531657553 | chr8:1340564-1340565 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs545003625 | chr8:1340567-1340568 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs34213415 | chr8:1340584-1340585 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 29 | rs544595593 | chr8:1340586-1340587 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs527892842 | chr8:1340588-1340589 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs574886419 | chr8:1356008-1356009 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs112265504 | chr8:1356009-1356010 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs7819095 | chr8:1356011-1356012 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs557335884 | chr8:1356014-1356015 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs565257625 | chr8:1356015-1356016 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs111433894 | chr8:1356037-1356038 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs183710991 | chr8:1356054-1356055 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs188770019 | chr8:1356055-1356056 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs35591395 | chr8:1356056-1356057 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 40 | rs140454984 | chr8:1356061-1356062 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs561826480 | chr8:1356071-1356072 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs144417525 | chr8:1356076-1356077 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs181129453 | chr8:1356085-1356086 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs186120348 | chr8:1356086-1356087 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs541152503 | chr8:1356099-1356100 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs191627337 | chr8:1356109-1356110 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs10088569 | chr8:1356113-1356114 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 48 | rs34385223 | chr8:1356115-1356116 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs566074844 | chr8:1356127-1356128 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs548510448 | chr8:1356137-1356138 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:118)
| Disease | PMID | Source |
|---|---|---|
| Ovarian cancer | 21720365 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Congenital diaphragmatic hernia | 21341218 | CNVD |
| Cancer | 18840272 | CNVD |
| Pilocytic astrocytoma | 18622384 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Prostate cancer | 16573809 | 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 |
| Cancer | 20164919 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| small cell lung cancer | 20016488 | 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 |
| Breast cancer | 21364760 | CNVD |
| Esophageal adenocarcinoma | 19417022 | 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 |
| Autism | 20531469 | CNVD |
| Breast cancer | 20932292 | CNVD |
| Congenital diaphragmatic hernia | 21064195 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:1338000-1340400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr8:1340400-1340600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr8:1340400-1340600 | Enhancers | Stomach Smooth Muscle | stomach |
| 4 | chr8:1356000-1356800 | ZNF genes & repeats | Esophagus | oesophagus |
| 5 | chr8:1356600-1357200 | Enhancers | Brain Germinal Matrix | brain |
