Variant report
| Variant | esv3518961 |
|---|---|
| Chromosome Location | chr12:72739745-72739906 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:72739895..72740811-chr12:72859977..72860672,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs377345088 | chr12:72739777-72739778 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs192311236 | chr12:72739784-72739785 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs4628722 | chr12:72739789-72739790 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs372207926 | chr12:72739801-72739802 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs76731879 | chr12:72739805-72739806 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs71071827 | chr12:72739806-72739807 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs576380689 | chr12:72739807-72739808 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs139099851 | chr12:72739838-72739839 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs368636930 | chr12:72739855-72739856 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:74)
| 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 |
| Autism | 20685689 | 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 |
| Williams Syndrome | 20824207 | CNVD |
| Cancer | 20164920 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:72734600-72739800 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 2 | chr12:72737200-72740600 | Weak transcription | Psoas Muscle | Psoas |
| 3 | chr12:72739400-72740600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 4 | chr12:72739400-72740800 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 5 | chr12:72739400-72741000 | Enhancers | Brain Cingulate Gyrus | brain |
| 6 | chr12:72739400-72741000 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 7 | chr12:72739400-72741200 | Enhancers | Brain Angular Gyrus | brain |
| 8 | chr12:72739400-72741200 | Enhancers | Brain Hippocampus Middle | brain |
| 9 | chr12:72739400-72741200 | Enhancers | Brain Substantia Nigra | brain |
| 10 | chr12:72739400-72741600 | Enhancers | Brain Anterior Caudate | brain |
| 11 | chr12:72739800-72740800 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
