Variant report
| Variant | esv3422241 |
|---|---|
| Chromosome Location | chr3:99014382-99014610 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs116556485 | chr3:99014393-99014394 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs113002937 | chr3:99014405-99014406 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs532522594 | chr3:99014428-99014429 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs552594480 | chr3:99014462-99014463 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs149212954 | chr3:99014490-99014491 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs143380067 | chr3:99014491-99014492 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs3057196 | chr3:99014493-99014494 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs562747874 | chr3:99014498-99014499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs531727497 | chr3:99014511-99014512 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs548548887 | chr3:99014547-99014548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs1318850 | chr3:99014563-99014564 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs191226329 | chr3:99014577-99014578 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs547288481 | chr3:99014583-99014584 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs570595764 | chr3:99014607-99014608 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:52)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:99013600-99014400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 2 | chr3:99013600-99014400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 3 | chr3:99014000-99017400 | Weak transcription | Muscle Satellite Cultured Cells | -- |
