Variant report
| Variant | esv3433881 |
|---|---|
| Chromosome Location | chr2:12103201-12103650 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs564761247 | chr2:12103252-12103253 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs11891008 | chr2:12103269-12103270 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 3 | rs549736997 | chr2:12103283-12103284 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs73177633 | chr2:12103284-12103285 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs563335665 | chr2:12103305-12103306 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs529330244 | chr2:12103306-12103307 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs573767560 | chr2:12103350-12103351 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs371762096 | chr2:12103403-12103404 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs566545986 | chr2:12103418-12103419 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs534030837 | chr2:12103432-12103433 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs191453336 | chr2:12103451-12103452 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs184174949 | chr2:12103453-12103454 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs59826552 | chr2:12103474-12103475 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs538158168 | chr2:12103528-12103529 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs556182064 | chr2:12103574-12103575 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:61)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17133270 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Cancer | 20164920 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 16751803 | CNVD |
| Neuroblastoma | 16790693 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Adrenal tumor | 17535989 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Medulloblastoma | 17522785 | CNVD |
| Cancer | 23418310 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Ependymoma | 16718352 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Breast cancer | 21804112 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Glioma | 17123091 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:12096400-12104200 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 2 | chr2:12101800-12104400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 3 | chr2:12102000-12105800 | Weak transcription | GM12878-XiMat | blood |
| 4 | chr2:12102200-12107000 | Weak transcription | Fetal Lung | lung |
| 5 | chr2:12102600-12104000 | Enhancers | Rectal Smooth Muscle | rectum |
| 6 | chr2:12102600-12104000 | Enhancers | K562 | blood |
| 7 | chr2:12102600-12105000 | Enhancers | Colon Smooth Muscle | Colon |
| 8 | chr2:12102800-12103400 | Flanking Active TSS | Fetal Kidney | kidney |
| 9 | chr2:12103200-12108000 | Weak transcription | Left Ventricle | heart |
| 10 | chr2:12103200-12108000 | Weak transcription | Right Atrium | heart |
| 11 | chr2:12103400-12104000 | Enhancers | Fetal Kidney | kidney |
