Variant report
| Variant | esv2165436 |
|---|---|
| Chromosome Location | chr3:141490124-141490552 |
| 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 | chr3:141487899..141490249-chr3:141493907..141496843,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:17 , 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 | rs80248193 | chr3:141490160-141490161 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs574282471 | chr3:141490195-141490196 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs577420513 | chr3:141490213-141490214 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs538809090 | chr3:141490217-141490218 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs557209979 | chr3:141490251-141490252 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs73872322 | chr3:141490286-141490287 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs371570307 | chr3:141490332-141490333 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542903850 | chr3:141490344-141490345 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs558006860 | chr3:141490393-141490394 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs374435079 | chr3:141490403-141490404 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs115579193 | chr3:141490434-141490435 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs564608418 | chr3:141490439-141490440 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs571749311 | chr3:141490469-141490470 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs532090428 | chr3:141490484-141490485 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs550292697 | chr3:141490493-141490494 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs533071049 | chr3:141490534-141490535 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs142457397 | chr3:141490535-141490536 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| 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 |
| T-cell prolymphocytic leukemia | 17713554 | 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 |
| Lung cancer | 16740712 | 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 |
| Congenital anomalies of the kidney and urinary tract | 20605837 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:141461800-141498200 | Weak transcription | Right Ventricle | heart |
| 2 | chr3:141472000-141500800 | Weak transcription | Thymus | Thymus |
| 3 | chr3:141487200-141497200 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 4 | chr3:141488200-141490600 | Enhancers | HepG2 | liver |
| 5 | chr3:141489000-141495800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
