Variant report
| Variant | esv3418479 |
|---|---|
| Chromosome Location | chr16:52293519-52294409 |
| 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:38 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs535755841 | chr16:52293529-52293530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs555954406 | chr16:52293562-52293563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs62041427 | chr16:52293581-52293582 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs9929230 | chr16:52293588-52293589 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs535183625 | chr16:52293594-52293595 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs557439278 | chr16:52293609-52293610 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs577316149 | chr16:52293619-52293620 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs375566326 | chr16:52293629-52293630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs543056416 | chr16:52293630-52293631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs558101618 | chr16:52293659-52293660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs562929342 | chr16:52293667-52293668 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs573627870 | chr16:52293710-52293711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs375521853 | chr16:52293724-52293725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs549692937 | chr16:52293741-52293742 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs62041428 | chr16:52293742-52293743 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs559566053 | chr16:52293748-52293749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs554615343 | chr16:52293752-52293753 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs528287008 | chr16:52293798-52293799 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs538040313 | chr16:52293810-52293811 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs576131011 | chr16:52293813-52293814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs113791826 | chr16:52293884-52293885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs564614184 | chr16:52293917-52293918 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs533452432 | chr16:52293954-52293955 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs550230694 | chr16:52293970-52293971 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs570041884 | chr16:52294021-52294022 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs535812498 | chr16:52294045-52294046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs184879015 | chr16:52294095-52294096 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs190119416 | chr16:52294177-52294178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs62041429 | chr16:52294192-52294193 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs534954917 | chr16:52294219-52294220 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs557922841 | chr16:52294227-52294228 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs577354800 | chr16:52294302-52294303 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs67253370 | chr16:52294303-52294304 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 34 | rs200493051 | chr16:52294304-52294305 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs556614211 | chr16:52294366-52294367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs538349081 | chr16:52294367-52294368 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs573573842 | chr16:52294387-52294388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs553493200 | chr16:52294388-52294389 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:68)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Cancer | 20164920 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 17850661 | CNVD |
| Breast cancer | 16702952 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Cancer | 22429812 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Ewing''s sarcoma | 22429812 | CNVD |
| Melanoma | 18172304 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Multiple myeloma | 21628407 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Disease | 22140031 | CNVD |
| Non-syndromic sensorineural hearing loss | 22140031 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Retinoblastoma | 19183342 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Infertility | 21528002 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:52280400-52301000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 2 | chr16:52286800-52298400 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 3 | chr16:52286800-52299200 | Weak transcription | Fetal Brain Male | brain |
| 4 | chr16:52287400-52295200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 5 | chr16:52287600-52295400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 6 | chr16:52291800-52299200 | Weak transcription | Fetal Kidney | kidney |
