Variant report
| Variant | esv3504229 |
|---|---|
| Chromosome Location | chr12:73388715-73389049 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs550539910 | chr12:73388746-73388747 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs188205340 | chr12:73388762-73388763 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs143882012 | chr12:73388780-73388781 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs541740427 | chr12:73388796-73388797 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs7488853 | chr12:73388836-73388837 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs530613877 | chr12:73388885-73388886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs7488856 | chr12:73388888-73388889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs7486458 | chr12:73388894-73388895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs376542679 | chr12:73388916-73388917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs550313156 | chr12:73388956-73388957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs563948737 | chr12:73388966-73388967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs12099696 | chr12:73388968-73388969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs12829209 | chr12:73388974-73388975 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs12099988 | chr12:73388987-73388988 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs148313816 | chr12:73389008-73389009 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs553078120 | chr12:73389016-73389017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs578047609 | chr12:73389049-73389050 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:70)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:73376800-73394200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
