Variant report
| Variant | esv3431366 |
|---|---|
| Chromosome Location | chr3:67765553-67766139 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs188079575 | chr3:67765606-67765607 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs1037819 | chr3:67765612-67765613 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs1037820 | chr3:67765635-67765636 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 4 | rs543868890 | chr3:67765636-67765637 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs79924962 | chr3:67765657-67765658 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs552010965 | chr3:67765701-67765702 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs180936190 | chr3:67765726-67765727 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs570315577 | chr3:67765748-67765749 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs375773073 | chr3:67765771-67765772 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs142227775 | chr3:67765782-67765783 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs560038340 | chr3:67765801-67765802 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs534482311 | chr3:67765808-67765809 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs551797547 | chr3:67765882-67765883 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs571177420 | chr3:67765980-67765981 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs533601684 | chr3:67766044-67766045 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs151230456 | chr3:67766078-67766079 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs376083872 | chr3:67766079-67766080 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs59316357 | chr3:67766108-67766109 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs140376021 | chr3:67766121-67766122 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs552738651 | chr3:67766130-67766131 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:82)
| Disease | PMID | Source |
|---|---|---|
| Melanoma | 18172304 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Insulin resistance | 16721378 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Epithelial cancer | 22065749 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Pancreatic endocrine tumor | 20981439 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 19490591 | CNVD |
| Autism | 18414403 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| Metastatic melanoma | 17975146 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Autism | 22102821 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Alzheimer''s disease | 22166940 | CNVD |
| Mental retardation | 20848658 | CNVD |
| Breast cancer | 17142309 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Breast cancer | 21364760 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:67705800-67776000 | Weak transcription | Ovary | ovary |
| 2 | chr3:67721400-67800400 | Weak transcription | Left Ventricle | heart |
| 3 | chr3:67755000-67765600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 4 | chr3:67763400-67765600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 5 | chr3:67764000-67765800 | Enhancers | H1 Cell Line | embryonic stem cell |
| 6 | chr3:67764400-67765600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 7 | chr3:67764600-67765800 | Enhancers | Placenta Amnion | Placenta Amnion |
| 8 | chr3:67764600-67769600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 9 | chr3:67764800-67766400 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 10 | chr3:67765600-67765800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 11 | chr3:67765600-67767000 | Enhancers | Fetal Lung | lung |
| 12 | chr3:67765800-67766400 | Weak transcription | Placenta Amnion | Placenta Amnion |
