Variant report
| Variant | esv3348072 |
|---|---|
| Chromosome Location | chr19:52045011-52045128 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- 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 | chr19:52038651..52041240-chr19:52044737..52046405,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:10 , 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 | rs111902903 | chr19:52045022-52045023 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs376531776 | chr19:52045025-52045026 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs527894801 | chr19:52045027-52045028 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs149502896 | chr19:52045043-52045044 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs146092945 | chr19:52045054-52045055 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs112558853 | chr19:52045110-52045111 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs62113289 | chr19:52045119-52045120 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs116436437 | chr19:52045120-52045121 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs140056884 | chr19:52045124-52045125 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs73067322 | chr19:52045128-52045129 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | 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 |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Adrenocortical carcinoma | 18281524 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Neuroblastoma | 20406844 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Cancer | 20164920 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:52044400-52045200 | Flanking Active TSS | K562 | blood |
| 2 | chr19:52044600-52045800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 3 | chr19:52044800-52045200 | Bivalent Enhancer | ES-UCSF4 Cell Line | embryonic stem cell |
| 4 | chr19:52044800-52045200 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 5 | chr19:52044800-52045600 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
| 6 | chr19:52044800-52046000 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 7 | chr19:52045000-52045400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
