Variant report
| Variant | esv1999399 |
|---|---|
| Chromosome Location | chr12:66565689-66565690 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | POLR2A | chr12:66565592-66565734 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
(count:5 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:66564516..66566525-chr12:66607365..66609026,2 | K562 | blood: | |
| 2 | chr12:66530596..66534894-chr12:66562580..66565717,4 | K562 | blood: | |
| 3 | chr12:66535914..66538687-chr12:66565341..66566985,2 | K562 | blood: | |
| 4 | chr12:66564277..66567051-chr12:66577014..66579195,2 | MCF-7 | breast: | |
| 5 | chr12:66537187..66538764-chr12:66565485..66567103,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| TMBIM4 | TF binding region |
| ENSG00000228144 | TF binding region |
| ENSG00000155957 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs12578752 | chr12:66565689-66565690 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
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 | chr12:66563800-66567200 | Weak transcription | Spleen | Spleen |
| 2 | chr12:66564400-66568000 | Enhancers | Primary monocytes fromperipheralblood | blood |
| 3 | chr12:66564400-66569200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 4 | chr12:66564400-66570000 | Weak transcription | Adipose Nuclei | Adipose |
| 5 | chr12:66564800-66566200 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 6 | chr12:66564800-66566200 | Weak transcription | Primary mononuclear cells fromperipheralblood | Blood |
| 7 | chr12:66564800-66566200 | Enhancers | Monocytes-CD14+_RO01746 | blood |
| 8 | chr12:66564800-66566600 | Weak transcription | Primary B cells from cord blood | blood |
| 9 | chr12:66565200-66566200 | Enhancers | Primary neutrophils fromperipheralblood | blood |
