Variant report
| Variant | esv3503351 |
|---|---|
| Chromosome Location | chr16:74289324-74289880 |
| 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:25 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs550276743 | chr16:74289414-74289415 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs376913575 | chr16:74289437-74289438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs570133456 | chr16:74289439-74289440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs529454199 | chr16:74289440-74289441 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs370531822 | chr16:74289441-74289442 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs565983670 | chr16:74289448-74289449 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs534992535 | chr16:74289451-74289452 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs200816336 | chr16:74289540-74289541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs553339805 | chr16:74289575-74289576 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs570161657 | chr16:74289642-74289643 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs538718215 | chr16:74289643-74289644 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs563729348 | chr16:74289644-74289645 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs576073768 | chr16:74289655-74289656 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs541980548 | chr16:74289681-74289682 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs368231422 | chr16:74289691-74289692 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs188456341 | chr16:74289706-74289707 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs563051594 | chr16:74289719-74289720 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs60986629 | chr16:74289746-74289747 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs561477328 | chr16:74289747-74289748 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs16973145 | chr16:74289780-74289781 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs180966790 | chr16:74289807-74289808 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs577995866 | chr16:74289814-74289815 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs149623350 | chr16:74289818-74289819 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs563773507 | chr16:74289844-74289845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs10500583 | chr16:74289877-74289878 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:69)
| 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 |
| 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 |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | 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 |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Melanoma | 22183965 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Poland''s syndrome | 22110015 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21183584 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 19156837 | CNVD |
| Acute myeloid leukemia | 17377590 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:74277600-74293000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
