Variant report
| Variant | esv1936481 |
|---|---|
| Chromosome Location | chr3:143912562-143913015 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs35161383 | chr3:143912579-143912580 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs150638508 | chr3:143912623-143912624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs562614959 | chr3:143912658-143912659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs189469646 | chr3:143912672-143912673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs548747793 | chr3:143912680-143912681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs560670507 | chr3:143912726-143912727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs374793399 | chr3:143912749-143912750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs552864402 | chr3:143912754-143912755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs115990818 | chr3:143912759-143912760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs116350547 | chr3:143912770-143912771 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs552795012 | chr3:143912778-143912779 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs549931240 | chr3:143912794-143912795 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs568134615 | chr3:143912796-143912797 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs535328270 | chr3:143912799-143912800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs571016504 | chr3:143912829-143912830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs181428039 | chr3:143912837-143912838 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs377333378 | chr3:143912863-143912864 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs139930370 | chr3:143912900-143912901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs73008397 | chr3:143912914-143912915 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs576847639 | chr3:143912935-143912936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | 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 |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| microdeletion syndrome | 22180640 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Colorectal cancer | 18645599 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Blepharophimosis-ptosis-epicanthus inversus syndrome | 22067867 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| abnormal development | 18461090 | CNVD |
| Cancer | 21129771 | CNVD |
| Ovarian cancer | 23621864 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Adrenocortical carcinoma | 18281524 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20605837 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:143898400-143919000 | Weak transcription | Ovary | ovary |
