Variant report
| Variant | esv3502515 |
|---|---|
| Chromosome Location | chr3:195198263-195212011 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-ACAP2-1 | chr3:195204068-195204142 | refGeneNc_4303_NR_033944 |
| 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 | rs115613139 | chr3:195198285-195198286 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs552333165 | chr3:195198291-195198292 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs147489571 | chr3:195198323-195198324 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs186123004 | chr3:195198347-195198348 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs139322072 | chr3:195198354-195198355 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs568779673 | chr3:195198359-195198360 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs190884899 | chr3:195198365-195198366 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs565080971 | chr3:195198366-195198367 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs2686443 | chr3:195198382-195198383 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs540478654 | chr3:195198392-195198393 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs4282095 | chr3:195198396-195198397 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs71291758 | chr3:195204076-195204077 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 13 | rs367943417 | chr3:195204100-195204101 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 14 | rs4081059 | chr3:195204118-195204119 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 15 | rs71626357 | chr3:195204137-195204138 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:82)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Melanoma | 21693616 | CNVD |
| Lung cancer | 21426551 | CNVD |
| Cancer | 21637783 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 22065749 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Cancer | 16751803 | CNVD |
| abnormal development | 18461090 | CNVD |
| Autism | 19653912 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 20164920 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Austim spectrum disorder | 21302340 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Epilepsy | 20736978 | CNVD |
| Mental retardation | 20736978 | CNVD |
| speech impairment | 20736978 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20299530 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Cancer | 21129771 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Neurodevelopmental disorder | 16760732 | CNVD |
| Schizophrenia | 22118685 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Schizophrenia | 21285140 | CNVD |
| Schizophrenia | 20970697 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Autism | 20970697 | CNVD |
| Developmental delay | 18471269 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Adenocarcinoma | 19607727 | CNVD |
| Squamous cell cancer | 19607727 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| 3q29 microdeletion syndrome | 20500065 | CNVD |
| Biliary cancer | 20453639 | CNVD |
| 3q29 microdeletion syndrome | 22283845 | CNVD |
| 3q29 microdeletion syndrome | 21626679 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:195198200-195198400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
