Variant report
| Variant | esv3480611 |
|---|---|
| Chromosome Location | chr8:125144905-125147099 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:125144844..125146869-chr8:125149963..125151854,2 | K562 | blood: |
| 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 | rs568663970 | chr8:125144935-125144936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs141024381 | chr8:125144950-125144951 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs182186714 | chr8:125145077-125145078 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs4265167 | chr8:125145107-125145108 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs564956582 | chr8:125145158-125145159 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs112316019 | chr8:125145187-125145188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs186791611 | chr8:125145230-125145231 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs547412863 | chr8:125145244-125145245 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs561605963 | chr8:125145274-125145275 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs57234689 | chr8:125145295-125145296 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs537229577 | chr8:125145373-125145374 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs114288522 | chr8:125145410-125145411 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs570120945 | chr8:125145482-125145483 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs144972417 | chr8:125145491-125145492 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs193068675 | chr8:125145532-125145533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs565817383 | chr8:125145542-125145543 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs73334231 | chr8:125145583-125145584 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs554533811 | chr8:125145603-125145604 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs573889122 | chr8:125145618-125145619 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs375085857 | chr8:125145661-125145662 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs151244897 | chr8:125145663-125145664 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs545964838 | chr8:125145694-125145695 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs576191625 | chr8:125145701-125145702 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs557875339 | chr8:125145702-125145703 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs565018967 | chr8:125145786-125145787 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs188862322 | chr8:125145803-125145804 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs543004318 | chr8:125145820-125145821 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs541034846 | chr8:125145828-125145829 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs4389915 | chr8:125145902-125145903 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 30 | rs74677927 | chr8:125145910-125145911 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs150422767 | chr8:125145921-125145922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs563993970 | chr8:125146030-125146031 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs118049350 | chr8:125146032-125146033 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs114077213 | chr8:125146034-125146035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs557418093 | chr8:125146131-125146132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs565878813 | chr8:125146149-125146150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs528526078 | chr8:125146165-125146166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs548180484 | chr8:125146225-125146226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs145259809 | chr8:125146251-125146252 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs377460178 | chr8:125146279-125146280 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs556211293 | chr8:125146292-125146293 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs569928104 | chr8:125146307-125146308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs538876162 | chr8:125146353-125146354 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs193041242 | chr8:125146358-125146359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs149557722 | chr8:125146361-125146362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs79117650 | chr8:125146366-125146367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs541098234 | chr8:125146367-125146368 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs556261859 | chr8:125146374-125146375 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs540909885 | chr8:125146393-125146394 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs546293664 | chr8:125146427-125146428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:142)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Seminomas | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| abnormal development | 18461090 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Langer-Giedion syndrome | 22283845 | CNVD |
| Cancer | 21637783 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Cancer | 22429812 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Breast cancer | 22028636 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 16751803 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| head and neck squamous cell carcinoma | 18028549 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 21399628 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Congenital diaphragmatic hernia | 21525063 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Papillary thyroid cancer | 17515504 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Breast cancer | 20932292 | CNVD |
| Gastric cancer | 22539939 | CNVD |
| Breast cancer | 22056952 | CNVD |
| Langer-Giedion syndrome | 16773131 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Mental retardation | 16773131 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Langer-Giedion syndrome | 22470819 | CNVD |
| Cornelia de Lange syndrome | 24599119 | CNVD |
| Gastric cancer | 21528007 | CNVD |
| Breast cancer | 22532251 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Cancer | 21129771 | CNVD |
| benign familial neonatal convulsions | 18472482 | CNVD |
| Breast cancer | 16417655 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Cancer | 21183584 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Breast cancer | 20814816 | CNVD |
| Colorectal cancer | 22486879 | CNVD |
| Breast cancer | 17908964 | CNVD |
| Colorectal cancer | 20031965 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Ovarian cancer | 17908964 | CNVD |
| Ovarian cancer | 20031965 | CNVD |
| Prostate cancer | 20031965 | CNVD |
| Non-small cell lung cancer | 17643093 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Acute myeloid leukemia | 17268525 | CNVD |
| Acute myeloid leukemia | 18379011 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Oral squamous cell carcinoma | 21853135 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Gastric cancer | 18160780 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:125142200-125152800 | Weak transcription | Gastric | stomach |
| 2 | chr8:125142400-125150200 | Weak transcription | Pancreas | Pancrea |
| 3 | chr8:125146600-125149200 | Weak transcription | Fetal Heart | heart |
