Variant report
| Variant | nsv968173 |
|---|---|
| Chromosome Location | chr5:51958597-51959325 |
| 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:28 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs182803408 | chr5:51958608-51958609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs565299346 | chr5:51958650-51958651 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs537426803 | chr5:51958671-51958672 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs188449592 | chr5:51958692-51958693 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs577662954 | chr5:51958712-51958713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs544706659 | chr5:51958729-51958730 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs530884370 | chr5:51958782-51958783 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs370064174 | chr5:51958788-51958789 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs371426565 | chr5:51958830-51958831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs192677372 | chr5:51958892-51958893 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs571927201 | chr5:51958924-51958925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs542487917 | chr5:51958928-51958929 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs183108021 | chr5:51958936-51958937 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs13358437 | chr5:51958993-51958994 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs377293830 | chr5:51959024-51959025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs549901530 | chr5:51959028-51959029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs187605541 | chr5:51959029-51959030 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs532458648 | chr5:51959040-51959041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs11738457 | chr5:51959108-51959109 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 20 | rs531464815 | chr5:51959111-51959112 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs538264778 | chr5:51959192-51959193 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs191319112 | chr5:51959203-51959204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs543317870 | chr5:51959206-51959207 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs536818700 | chr5:51959208-51959209 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs556366666 | chr5:51959209-51959210 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs150526399 | chr5:51959210-51959211 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs76168704 | chr5:51959239-51959240 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs113221738 | chr5:51959309-51959310 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:88)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | 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 |
| 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 |
| Cancer | 16751803 | CNVD |
| Autism | 22495311 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21183584 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioma | 20126413 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Cancer | 21359685 | CNVD |
| adenomatous polyposis | 22470819 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Cancer | 22429812 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Leukemia | 17361228 | CNVD |
| Myelodysplastic syndrome | 18508791 | CNVD |
| 5q-syndrome | 17576883 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Lung cancer | 21911935 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:51958000-51965800 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 2 | chr5:51958400-51959600 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 3 | chr5:51958400-51960400 | Weak transcription | Dnd41 | blood |
