Variant report
| Variant | esv2566072 |
|---|---|
| Chromosome Location | chr13:95153714-95155132 |
| 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:34 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs151033072 | chr13:95153716-95153717 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs375207485 | chr13:95153768-95153769 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs557353577 | chr13:95153793-95153794 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs77072991 | chr13:95153803-95153804 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs536361036 | chr13:95153811-95153812 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs370595009 | chr13:95153859-95153860 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs9561566 | chr13:95153874-95153875 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs10643728 | chr13:95153888-95153889 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs34743775 | chr13:95153889-95153890 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs199679404 | chr13:95153894-95153895 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs566767236 | chr13:95153916-95153917 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs376741282 | chr13:95153968-95153969 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs7998655 | chr13:95153977-95153978 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs9556376 | chr13:95154613-95154614 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs191789426 | chr13:95154618-95154619 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs184005840 | chr13:95154665-95154666 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs77667614 | chr13:95154680-95154681 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs9556377 | chr13:95154693-95154694 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs556768372 | chr13:95154712-95154713 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs148847427 | chr13:95154722-95154723 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs559137284 | chr13:95154723-95154724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs189225903 | chr13:95154724-95154725 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs9556378 | chr13:95154754-95154755 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs192892498 | chr13:95154775-95154776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs9556379 | chr13:95154796-95154797 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs114428334 | chr13:95154799-95154800 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs9524529 | chr13:95155043-95155044 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs200389397 | chr13:95155049-95155050 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs369189174 | chr13:95155054-95155055 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs143750310 | chr13:95155072-95155073 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs1886787 | chr13:95155082-95155083 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 32 | rs530028403 | chr13:95155085-95155086 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs546625088 | chr13:95155120-95155121 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs566607806 | chr13:95155129-95155130 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:84)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Chordoma | 21602918 | CNVD |
| Bladder cancer | 21949216 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Cancer | 21637783 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 21518781 | CNVD |
| colon cancer | 17210682 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Intracranial aneurysm | 19064780 | CNVD |
| Breast cancer | 19287154 | CNVD |
| Acute myeloid leukemia | 18379011 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Melanoma | 18172304 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Omodysplasia | 19481194 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Rhabdomyosarcoma | 17210683 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Intellectual disability | 21811512 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:95153600-95154000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr13:95154600-95154800 | Enhancers | Fetal Thymus | thymus |
| 3 | chr13:95155000-95155200 | Active TSS | iPS DF 19.11 Cell Line | embryonic stem cell |
