Variant report
| Variant | esv33224 |
|---|---|
| Chromosome Location | chr5:43254597-43255039 |
| 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:29 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs376007930 | chr5:43254611-43254612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs368318731 | chr5:43254621-43254622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs550660966 | chr5:43254641-43254642 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs567697525 | chr5:43254663-43254664 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs536815306 | chr5:43254690-43254691 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs553295574 | chr5:43254696-43254697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs572352510 | chr5:43254700-43254701 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs567126976 | chr5:43254710-43254711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs546145494 | chr5:43254736-43254737 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs559326846 | chr5:43254739-43254740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs577691046 | chr5:43254778-43254779 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs116445699 | chr5:43254788-43254789 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs150412310 | chr5:43254838-43254839 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs188852652 | chr5:43254885-43254886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs192237560 | chr5:43254891-43254892 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs958150 | chr5:43254897-43254898 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs143147840 | chr5:43254909-43254910 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs559298456 | chr5:43254913-43254914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs528303728 | chr5:43254924-43254925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs544878341 | chr5:43254946-43254947 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs564880355 | chr5:43254957-43254958 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs4428421 | chr5:43254973-43254974 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs185659251 | chr5:43254981-43254982 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs77888045 | chr5:43254990-43254991 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs80276218 | chr5:43254991-43254992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs75908078 | chr5:43254992-43254993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs567706747 | chr5:43254996-43254997 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs113184454 | chr5:43254999-43255000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs190583986 | chr5:43255023-43255024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:93)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 16783165 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Cervical cancer | 18559093 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Malaria | 21533027 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Gastric cancer | 22152101 | CNVD |
| Oesophago-gastric ulcer | 22152101 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| DNA damage stimulus | 22844521 | CNVD |
| DNA repair | 22844521 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Spinal muscular atrophy | 22422766 | CNVD |
| Spinal muscular atrophy | 22558076 | CNVD |
| Spinal muscular atrophy | 21320981 | CNVD |
| Spinal muscular atrophy | 21762474 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Cancer | 16751803 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Autism | 22495311 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cervical squamous cell carcinoma | 21590768 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21183584 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioma | 20126413 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Pleomorphic liposarcoma | 18784837 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ovarian clear cell carcinoma | 19293255 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Intellectual disability | 21811512 | CNVD |
| Lung adenocarcinoma | 21935476 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Cancer | 21359685 | CNVD |
| adenomatous polyposis | 22470819 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Lung cancer | 21569311 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:43246600-43281400 | Weak transcription | Brain Hippocampus Middle | brain |
| 2 | chr5:43247200-43255400 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
| 3 | chr5:43247400-43256600 | Weak transcription | Brain Anterior Caudate | brain |
| 4 | chr5:43247600-43259800 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 5 | chr5:43247600-43261400 | Weak transcription | Brain Angular Gyrus | brain |
