Variant report
| Variant | esv3339305 |
|---|---|
| Chromosome Location | chr13:88382251-88384049 |
| 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:24 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs538395903 | chr13:88383415-88383416 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs556705725 | chr13:88383436-88383437 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs149526226 | chr13:88383484-88383485 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs535505778 | chr13:88383506-88383507 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs554168348 | chr13:88383510-88383511 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs569555228 | chr13:88383531-88383532 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs562493375 | chr13:88383586-88383587 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs540180194 | chr13:88383677-88383678 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs1335396 | chr13:88383679-88383680 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs374858107 | chr13:88383719-88383720 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs144160448 | chr13:88383720-88383721 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs207474173 | chr13:88383778-88383779 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs555198900 | chr13:88383779-88383780 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs573665744 | chr13:88383794-88383795 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs568629475 | chr13:88383798-88383799 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs543966658 | chr13:88383804-88383805 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs370341331 | chr13:88383825-88383826 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs16958310 | chr13:88383828-88383829 | Bivalent Enhancer Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs529823231 | chr13:88383876-88383877 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs1335397 | chr13:88383878-88383879 | Bivalent Enhancer Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs560134784 | chr13:88383880-88383881 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs527274501 | chr13:88383925-88383926 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs1335398 | chr13:88383964-88383965 | Bivalent Enhancer Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs552576491 | chr13:88384038-88384039 | Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:85)
| 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 |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Developmental delay | 21147756 | 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 |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | 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 |
| abnormal development | 18461090 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Cancer | 21220470 | CNVD |
| Cancer | 21183584 | CNVD |
| Omodysplasia | 19481194 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Mantle cell lymphoma | 19690137 | CNVD |
| Rhabdomyosarcoma | 17210683 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Breast cancer | 17142309 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Medulloblastoma | 19270706 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:88383400-88384000 | Bivalent Enhancer | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr13:88383600-88384200 | Bivalent Enhancer | HUES64 Cell Line | embryonic stem cell |
| 3 | chr13:88383600-88384200 | Bivalent Enhancer | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr13:88383600-88384200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 5 | chr13:88383600-88384400 | Bivalent Enhancer | HUES48 Cell Line | embryonic stem cell |
