Variant report
| Variant | esv3433123 |
|---|---|
| Chromosome Location | chr12:63461325-63461494 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000252660 | chromatin interactions |
| ENSG00000111110 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:6 , 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 | rs575883172 | chr12:63461325-63461326 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 2 | rs540548280 | chr12:63461340-63461341 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 3 | rs560791835 | chr12:63461385-63461386 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 4 | rs1845602 | chr12:63461388-63461389 | Weak transcription | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs1845601 | chr12:63461427-63461428 | Weak transcription | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs577977878 | chr12:63461463-63461464 | Weak transcription | Chromatin interactive region | 2 gene(s) | 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 |
| Lissencephaly | 21572526 | 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 |
| Phyllodes tumor | 17334353 | CNVD |
| Glaucoma | 21310917 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Glaucoma | 21447600 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Developmental delay | 21267005 | CNVD |
| 12q14 microdeletion syndrome | 21267005 | CNVD |
| Developmental delay | 19277063 | CNVD |
| Dwarfism | 19277063 | 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 |
| Multiple myeloma | 16616336 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Breast cancer | 21364760 | 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 |
| Myelofibrosis | 22110671 | CNVD |
| Heart disease | 21282601 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:63456000-63462400 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
| 2 | chr12:63456600-63462600 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr12:63458400-63462800 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 4 | chr12:63458400-63469200 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 5 | chr12:63458600-63462400 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 6 | chr12:63458800-63462400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 7 | chr12:63461000-63465200 | Weak transcription | Fetal Intestine Small | intestine |
| 8 | chr12:63461200-63462200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 9 | chr12:63461200-63462800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
