Variant report
| Variant | esv2760265 |
|---|---|
| Chromosome Location | chr12:73429579-73444590 |
| 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 | rs187228027 | chr12:73435040-73435041 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs11179520 | chr12:73435084-73435085 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs531676927 | chr12:73435155-73435156 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs528820440 | chr12:73435185-73435186 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs549760254 | chr12:73435222-73435223 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs548868734 | chr12:73435269-73435270 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs192552724 | chr12:73435288-73435289 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs184359751 | chr12:73435292-73435293 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs547536714 | chr12:73435403-73435404 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs553777071 | chr12:73435458-73435459 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs565809844 | chr12:73435478-73435479 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs539144960 | chr12:73435528-73435529 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs557776139 | chr12:73435565-73435566 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs569548085 | chr12:73435591-73435592 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs538537530 | chr12:73435594-73435595 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs556402188 | chr12:73435596-73435597 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs369571847 | chr12:73435625-73435626 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs562321609 | chr12:73435672-73435673 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs553929411 | chr12:73435680-73435681 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs572243471 | chr12:73435781-73435782 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:71)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 16620391 | CNVD |
| Disease | 21505450 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Osteosarcoma | 21215367 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:73435000-73435800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
