Variant report
| Variant | esv5085 |
|---|---|
| Chromosome Location | chr12:41757407-41757659 |
| 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 | chr12:41753701..41755841-chr12:41755916..41757984,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:14 , 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 | rs181212403 | chr12:41757408-41757409 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs12318990 | chr12:41757413-41757414 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs77731552 | chr12:41757436-41757437 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs386508596 | chr12:41757438-41757439 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs200244237 | chr12:41757439-41757440 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs201390192 | chr12:41757440-41757441 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs12818858 | chr12:41757444-41757445 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs368426618 | chr12:41757521-41757522 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs370630214 | chr12:41757523-41757524 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs368697220 | chr12:41757525-41757526 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs75643519 | chr12:41757526-41757527 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs79083001 | chr12:41757528-41757529 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs553847083 | chr12:41757594-41757595 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs61924115 | chr12:41757617-41757618 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| 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 |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | 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 |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 20858243 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Cancer | 20164920 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 21364760 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:41755000-41759600 | Weak transcription | Rectal Smooth Muscle | rectum |
| 2 | chr12:41755400-41760200 | Enhancers | Brain Germinal Matrix | brain |
| 3 | chr12:41756600-41758400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 4 | chr12:41756800-41758600 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 5 | chr12:41757000-41758600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 6 | chr12:41757000-41759600 | Weak transcription | Brain Hippocampus Middle | brain |
| 7 | chr12:41757400-41759600 | Weak transcription | Fetal Kidney | kidney |
