Variant report
| Variant | esv3423351 |
|---|---|
| Chromosome Location | chr12:119818410-119818678 |
| 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 | chr12:119816571..119818940-chr12:119824942..119826666,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:7 , 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 | rs11064767 | chr12:119818419-119818420 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs371192714 | chr12:119818455-119818456 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs11064768 | chr12:119818509-119818510 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | disease |
| 4 | rs76147054 | chr12:119818532-119818533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs138393595 | chr12:119818533-119818534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs369229759 | chr12:119818658-119818659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs527850715 | chr12:119818669-119818670 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:72)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| 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 |
| small cell lung cancer | 20016488 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Cancer | 16751803 | 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 |
| Wilms tumour | 21544195 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Schizophrenia | 18923514 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Cryptorchidism | 21048976 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Beckwith-Wiedemann syndrome | 20648245 | CNVD |
| Developmental delay | 21457577 | CNVD |
| dysmorphic | 21457577 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:119811400-119819600 | Weak transcription | Lung | lung |
| 2 | chr12:119815800-119819400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr12:119817200-119818800 | Weak transcription | Right Atrium | heart |
| 4 | chr12:119817400-119818800 | Weak transcription | Left Ventricle | heart |
| 5 | chr12:119817400-119819800 | Weak transcription | Fetal Lung | lung |
| 6 | chr12:119817400-119820200 | Weak transcription | Right Ventricle | heart |
| 7 | chr12:119817400-119822400 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
| 8 | chr12:119817600-119823600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 9 | chr12:119818200-119819000 | Weak transcription | Fetal Heart | heart |
