Variant report
| Variant | esv3342267 |
|---|---|
| Chromosome Location | chr12:4683436-4683878 |
| 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 | chr12:4677609..4679805-chr12:4680922..4683723,3 | K562 | blood: |
(count:1 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-AKAP3-8 | chr12:4683605-4683724 | ucscGeneNc_uc001qnd_2 |
| 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 | rs10774241 | chr12:4683466-4683467 | Weak transcription | n/a | n/a | Overlapped CNVs | mRNA abundance |
| 2 | rs143291911 | chr12:4683491-4683492 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs10774242 | chr12:4683495-4683496 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs551762679 | chr12:4683508-4683509 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs564193494 | chr12:4683515-4683516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs562172490 | chr12:4683553-4683554 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs533281697 | chr12:4683580-4683581 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs35335320 | chr12:4683592-4683593 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs567527790 | chr12:4683596-4683597 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs566656459 | chr12:4683675-4683676 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 11 | rs529142668 | chr12:4683682-4683683 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 12 | rs549097193 | chr12:4683692-4683693 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 13 | rs568981576 | chr12:4683735-4683736 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs181318472 | chr12:4683769-4683770 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs557754019 | chr12:4683808-4683809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:75)
| Disease | PMID | Source |
|---|---|---|
| Ovarian cancer | 20844748 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Cancer | 21183584 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Prostate cancer | 19156837 | CNVD |
| Emphysema | 19352772 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Malignant germ cell tumour | 17285132 | CNVD |
| Melanoma | 18172304 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cancer | 16751803 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Seminomas | 18059402 | CNVD |
| 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 |
| Testicular germ cell tumor | 18059402 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 20164919 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Adenocarcinoma | 19607727 | CNVD |
| Squamous cell cancer | 19607727 | CNVD |
| Epilepsy | 21858020 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:4672400-4685000 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr12:4673400-4692200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr12:4675800-4684000 | Weak transcription | Lung | lung |
| 4 | chr12:4678200-4684000 | Weak transcription | Dnd41 | blood |
| 5 | chr12:4679000-4688800 | Weak transcription | Primary B cells from peripheral blood | blood |
| 6 | chr12:4682800-4699600 | Weak transcription | Primary B cells from cord blood | blood |
