Variant report
| Variant | esv8422 |
|---|---|
| Chromosome Location | chr7:127766222-127766853 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
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Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs557899002 | chr7:127766261-127766262 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs185296450 | chr7:127766274-127766275 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs544084250 | chr7:127766298-127766299 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs562214749 | chr7:127766350-127766351 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs190152125 | chr7:127766352-127766353 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs145996152 | chr7:127766366-127766367 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs10258271 | chr7:127766400-127766401 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 8 | rs139586570 | chr7:127766402-127766403 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs71160609 | chr7:127766445-127766446 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs373444479 | chr7:127766552-127766553 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs112595953 | chr7:127766728-127766729 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs552439775 | chr7:127766775-127766776 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs529267065 | chr7:127766826-127766827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:78)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Malaria | 21533027 | CNVD |
| Melanoma | 18172304 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Low-grade fibromyxoid sarcoma | 0 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Shwachman-Diamond syndrome | 22934832 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Cutaneous malignant melanoma | 17690212 | CNVD |
| Leukemia | 17361228 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Malignant melanoma | 17690212 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Melanoma | 19188590 | CNVD |
| Hepatocellular carcinoma | 16785998 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Breast cancer | 21509527 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| abnormal development | 18461090 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Coffin-Siris syndrome | 21572526 | CNVD |
| Papillary thyroid carcinoma | 21436994 | CNVD |
| Retinitis pigmentosa | 17160897 | CNVD |
| Colorblindness | 17160897 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:127762400-127772000 | Weak transcription | Right Atrium | heart |
| 2 | chr7:127764200-127769000 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
| 3 | chr7:127766000-127766400 | Enhancers | Primary neutrophils fromperipheralblood | blood |
| 4 | chr7:127766200-127769200 | Weak transcription | Primary monocytes fromperipheralblood | blood |
| 5 | chr7:127766400-127768800 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
