Variant report
| Variant | esv3365301 |
|---|---|
| Chromosome Location | chr16:65209571-65209987 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:2 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-CDH11-1 | chr16:65209971-65210103 | XLOC_011976 |
| 2 | lnc-CDH11-1 | chr16:65209971-65210103 | ENSG00000259847.1 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| MAGI1 | miRNA target sites |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs576605592 | chr16:65209600-65209601 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs185649447 | chr16:65209619-65209620 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs558703622 | chr16:65209746-65209747 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs10500511 | chr16:65209750-65209751 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs28438430 | chr16:65209757-65209758 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs143559151 | chr16:65209780-65209781 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs560903004 | chr16:65209873-65209874 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs545744576 | chr16:65209877-65209878 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs559181941 | chr16:65209884-65209885 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs574344726 | chr16:65209909-65209910 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs550014177 | chr16:65209910-65209911 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs563417516 | chr16:65209934-65209935 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:72)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 17850661 | CNVD |
| Breast cancer | 16702952 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Cancer | 22429812 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Ewing''s sarcoma | 22429812 | CNVD |
| Melanoma | 18172304 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Multiple myeloma | 21628407 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Autism | 18414403 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Chordoma | 18071362 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Leiomyosarcoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Infiltrating lobular breast cancer | 19191266 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:65208600-65211200 | Enhancers | Fetal Lung | lung |
| 2 | chr16:65208800-65212000 | Enhancers | Fetal Stomach | stomach |
| 3 | chr16:65209000-65209600 | Flanking Active TSS | Ovary | ovary |
| 4 | chr16:65209200-65211800 | Enhancers | Fetal Muscle Leg | muscle |
| 5 | chr16:65209600-65209800 | Enhancers | Ovary | ovary |
| 6 | chr16:65209800-65210000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 7 | chr16:65209800-65210000 | Flanking Active TSS | Ovary | ovary |
