Variant report
| Variant | esv3345811 |
|---|---|
| Chromosome Location | chr3:83543837-83546210 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- 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 | chr3:83472452..83475298-chr3:83545575..83548143,2 | MCF-7 | breast: |
(count:1 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-CADM2-11 | chr3:83544382-83544433 | l_2402_chr3:83516296-83569558_testes |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:19 , 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 | rs149496796 | chr3:83544388-83544389 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs185884620 | chr3:83544410-83544411 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs189571747 | chr3:83544418-83544419 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs371059281 | chr3:83544423-83544424 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs372718700 | chr3:83545818-83545819 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs73842619 | chr3:83545858-83545859 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs531829887 | chr3:83545872-83545873 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs181590291 | chr3:83545936-83545937 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs571851497 | chr3:83545958-83545959 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs534314779 | chr3:83545987-83545988 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs554303557 | chr3:83546017-83546018 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs4374540 | chr3:83546019-83546020 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs536608019 | chr3:83546029-83546030 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs199554403 | chr3:83546046-83546047 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs556186895 | chr3:83546061-83546062 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs576259239 | chr3:83546086-83546087 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs113741969 | chr3:83546110-83546111 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs185078616 | chr3:83546143-83546144 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs571890069 | chr3:83546186-83546187 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:74)
| Disease | PMID | Source |
|---|---|---|
| Glioblastoma multiforme | 21080181 | CNVD |
| Melanoma | 18172304 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Insulin resistance | 16721378 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Epithelial cancer | 22065749 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Pancreatic endocrine tumor | 20981439 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20164919 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Soft tissue tumor | 16732325 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:83545800-83546400 | Enhancers | Fetal Lung | lung |
