Variant report
| Variant | esv3482330 |
|---|---|
| Chromosome Location | chr12:7799628-7800596 |
| 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:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs11055012 | chr12:7799791-7799792 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs201078166 | chr12:7799954-7799955 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs140080113 | chr12:7799955-7799956 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs370732090 | chr12:7800075-7800076 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs150304943 | chr12:7800083-7800084 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs60557242 | chr12:7800095-7800096 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs369666898 | chr12:7800096-7800097 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs200080173 | chr12:7800097-7800098 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs201262211 | chr12:7800098-7800099 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs56057691 | chr12:7800099-7800100 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs58948580 | chr12:7800107-7800108 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs147788486 | chr12:7800131-7800132 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs190444166 | chr12:7800147-7800148 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs7310952 | chr12:7800160-7800161 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs536827369 | chr12:7800183-7800184 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs181694908 | chr12:7800232-7800233 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs144978612 | chr12:7800247-7800248 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs371381865 | chr12:7800275-7800276 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs60370337 | chr12:7800281-7800282 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs534409092 | chr12:7800282-7800283 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs149107965 | chr12:7800381-7800382 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs143200730 | chr12:7800382-7800383 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs7975771 | chr12:7800383-7800384 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs114550018 | chr12:7800448-7800449 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs369602275 | chr12:7800460-7800461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs151228162 | chr12:7800543-7800544 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs140264052 | chr12:7800576-7800577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:78)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Acute lymphoblastic leukemia | 21248843 | 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 |
| Epilepsy | 21858020 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Malignant peripheral nerve sheath tumor | 19844265 | CNVD |
| Chronic lymphocytic leukemia | 21049055 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Alzheimer''s disease | 17160897 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Medullary thyroid carcinoma | 18765511 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
| Nasopharyngeal cancer | 20548289 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:7791400-7803600 | Weak transcription | Fetal Intestine Large | intestine |
| 2 | chr12:7798200-7800000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 3 | chr12:7798200-7800000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 4 | chr12:7798200-7800400 | Enhancers | Fetal Intestine Small | intestine |
| 5 | chr12:7798800-7802400 | Weak transcription | Small Intestine | intestine |
| 6 | chr12:7798800-7815200 | Weak transcription | Duodenum Mucosa | Duodenum |
| 7 | chr12:7799200-7800000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 8 | chr12:7799600-7800000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 9 | chr12:7800400-7801600 | Weak transcription | Fetal Intestine Small | intestine |
