Variant report
| Variant | esv3449089 |
|---|---|
| Chromosome Location | chr3:99123609-99124160 |
| 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 | rs535661612 | chr3:99123612-99123613 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs374876701 | chr3:99123751-99123752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs571710299 | chr3:99123759-99123760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs7627899 | chr3:99123770-99123771 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs7616511 | chr3:99123792-99123793 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs2623319 | chr3:99123796-99123797 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs560429027 | chr3:99123806-99123807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs532673095 | chr3:99123818-99123819 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs569105921 | chr3:99123829-99123830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs2700635 | chr3:99123859-99123860 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs112084723 | chr3:99123871-99123872 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs138037636 | chr3:99123883-99123884 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs531881713 | chr3:99123892-99123893 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs548705861 | chr3:99123927-99123928 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs568527526 | chr3:99123928-99123929 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs201758473 | chr3:99123945-99123946 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs534203362 | chr3:99123979-99123980 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs547781653 | chr3:99123994-99123995 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs73860914 | chr3:99124093-99124094 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs1021081 | chr3:99124094-99124095 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs369931523 | chr3:99124103-99124104 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs113519871 | chr3:99124119-99124120 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs576152920 | chr3:99124126-99124127 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs145975131 | chr3:99124132-99124133 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs139849114 | chr3:99124147-99124148 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| microdeletion syndrome | 22180640 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Melanoma | 21693616 | CNVD |
| Lung cancer | 21426551 | CNVD |
| Cancer | 21637783 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 22065749 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Epilepsy | 21858020 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:99118400-99130000 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr3:99118600-99132800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
