Variant report
| Variant | nsv822275 |
|---|---|
| Chromosome Location | chr3:144211596-144212386 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs56165545 | chr3:144211601-144211602 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs545195487 | chr3:144211611-144211612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs74328372 | chr3:144211634-144211635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs570787378 | chr3:144211673-144211674 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs199709137 | chr3:144211680-144211681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs564050939 | chr3:144211703-144211704 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs537893343 | chr3:144211780-144211781 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs145927446 | chr3:144211782-144211783 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs537937508 | chr3:144211918-144211919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs568446718 | chr3:144211952-144211953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs531071598 | chr3:144211979-144211980 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs112277462 | chr3:144211983-144211984 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs554313380 | chr3:144211988-144211989 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs9864125 | chr3:144212050-144212051 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 15 | rs539478143 | chr3:144212055-144212056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs557571864 | chr3:144212120-144212121 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs576105191 | chr3:144212177-144212178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs73009099 | chr3:144212195-144212196 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs555685389 | chr3:144212265-144212266 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs114062721 | chr3:144212368-144212369 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs150835849 | chr3:144212381-144212382 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Melanoma | 21693616 | CNVD |
| Lung cancer | 21426551 | CNVD |
| Cancer | 21637783 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 22065749 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| microdeletion syndrome | 22180640 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Colorectal cancer | 18645599 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Blepharophimosis-ptosis-epicanthus inversus syndrome | 22067867 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| abnormal development | 18461090 | CNVD |
| Cancer | 21129771 | CNVD |
| Ovarian cancer | 23621864 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20605837 | CNVD |
| Gastric cancer | 22014070 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:144210800-144215400 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
