Variant report
| Variant | esv1953620 |
|---|---|
| Chromosome Location | chr12:66451199-66451639 |
| 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 |
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Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs149884590 | chr12:66451220-66451221 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs562312842 | chr12:66451231-66451232 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs542217342 | chr12:66451232-66451233 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs182363246 | chr12:66451246-66451247 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs554559475 | chr12:66451248-66451249 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs59597653 | chr12:66451264-66451265 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs192361058 | chr12:66451265-66451266 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs572007710 | chr12:66451269-66451270 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs372377722 | chr12:66451286-66451287 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs546942824 | chr12:66451332-66451333 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs141777613 | chr12:66451367-66451368 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs200089102 | chr12:66451368-66451369 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs566655613 | chr12:66451463-66451464 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs529145937 | chr12:66451464-66451465 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs548855838 | chr12:66451465-66451466 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs568757963 | chr12:66451466-66451467 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs150753826 | chr12:66451467-66451468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs7974590 | chr12:66451468-66451469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs200166729 | chr12:66451476-66451477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs34014115 | chr12:66451492-66451493 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs372286251 | chr12:66451501-66451502 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs537634009 | chr12:66451512-66451513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs562067990 | chr12:66451517-66451518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs374178422 | chr12:66451569-66451570 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs184420951 | chr12:66451598-66451599 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs557447337 | chr12:66451625-66451626 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs543233409 | chr12:66451630-66451631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs527870701 | chr12:66451633-66451634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:79)
| 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 |
| Renal cell carcinoma | 18194544 | 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 |
| Glioblastoma multiforme | 17387387 | CNVD |
| liposarcomas | 17372913 | CNVD |
| Non-small cell lung cancer | 24170126 | CNVD |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 21785460 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Leukemia | 18628472 | CNVD |
| Fibroblasts | 20926602 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Mental retardation | 17220210 | CNVD |
| Osteopoikilosis | 17220210 | CNVD |
| short stature | 17220210 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 16620391 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Breast cancer | 22048815 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 21113617 | CNVD |
| Glioblastoma multiforme | 22291905 | CNVD |
| Glioblastoma multiforme | 19435819 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Lung cancer | 17925434 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Disease | 21505450 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:66449200-66452200 | Weak transcription | Fetal Brain Male | brain |
| 2 | chr12:66449600-66451400 | Enhancers | HepG2 | liver |
| 3 | chr12:66450200-66453800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 4 | chr12:66450400-66451200 | Enhancers | GM12878-XiMat | blood |
| 5 | chr12:66451200-66452400 | Weak transcription | GM12878-XiMat | blood |
| 6 | chr12:66451400-66454200 | Weak transcription | HepG2 | liver |
