Variant report
| Variant | esv3373806 |
|---|---|
| Chromosome Location | chr19:56505400-56505633 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs200779218 | chr19:56505419-56505420 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs113709940 | chr19:56505428-56505429 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs189619910 | chr19:56505490-56505491 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs574546799 | chr19:56505502-56505503 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs389029 | chr19:56505516-56505517 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs554025217 | chr19:56505541-56505542 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs576477700 | chr19:56505546-56505547 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs181270394 | chr19:56505559-56505560 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs371499241 | chr19:56505566-56505567 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs56239923 | chr19:56505567-56505568 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs531324372 | chr19:56505572-56505573 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs117255609 | chr19:56505579-56505580 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs562143055 | chr19:56505582-56505583 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs527842218 | chr19:56505594-56505595 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs547814898 | chr19:56505595-56505596 | ZNF genes & repeats Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs540667948 | chr19:56505613-56505614 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs533391488 | chr19:56505621-56505622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| Disease | PMID | Source |
|---|---|---|
| Myelodysplastic syndrome | 17634407 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Cancer | 20164919 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Congenital nephrotic syndrome | 18421352 | CNVD |
| Astrocytoma | 17934521 | CNVD |
| Leukemia | 17361228 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioma | 21971842 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| renal disease | 20603712 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Chordoma | 18071362 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18852474 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Neuroblastoma | 20406844 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Alzheimer''s disease | 22166940 | CNVD |
| Heart disease | 21282601 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Breast cancer | 20409316 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:56504800-56505600 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 2 | chr19:56504800-56505600 | Active TSS | GM12878-XiMat | blood |
| 3 | chr19:56505000-56505800 | Weak transcription | HSMMtube | muscle |
