Variant report
| Variant | esv3418121 |
|---|---|
| Chromosome Location | chr12:34312385-34314283 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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| No data |
| No data |
| No data |
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| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000256986 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:22 , 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 | rs75178095 | chr12:34313834-34313835 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs55679728 | chr12:34313841-34313842 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs546526698 | chr12:34313848-34313849 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs75803311 | chr12:34313874-34313875 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs78109593 | chr12:34313884-34313885 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs116141512 | chr12:34313899-34313900 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs199803103 | chr12:34313903-34313904 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs201171083 | chr12:34313929-34313930 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs534258591 | chr12:34313975-34313976 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs112959599 | chr12:34313977-34313978 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs180765365 | chr12:34313996-34313997 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs554059458 | chr12:34314034-34314035 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs573967526 | chr12:34314044-34314045 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs145611649 | chr12:34314067-34314068 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs74073504 | chr12:34314115-34314116 | ZNF genes & repeats | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs576499046 | chr12:34314116-34314117 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs185216876 | chr12:34314118-34314119 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs188514944 | chr12:34314129-34314130 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs527670337 | chr12:34314140-34314141 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs547776091 | chr12:34314162-34314163 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs560470357 | chr12:34314207-34314208 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs148836111 | chr12:34314281-34314282 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:51)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | 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 |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Cancer | 21129771 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Chordoma | 18071362 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:34314000-34320600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
