Variant report
| Variant | esv3379672 |
|---|---|
| Chromosome Location | chr3:24578923-24579126 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:7 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr3:24575483..24577164-chr3:24577911..24580560,3 | K562 | blood: | |
| 2 | chr3:24575483..24577164-chr3:24577911..24580259,2 | K562 | blood: | |
| 3 | chr3:24578355..24581904-chr3:24581941..24583831,3 | K562 | blood: | |
| 4 | chr3:24578631..24580678-chr3:24587686..24589577,2 | K562 | blood: | |
| 5 | chr3:24569309..24573994-chr3:24576073..24580821,8 | K562 | blood: | |
| 6 | chr3:24578355..24580610-chr3:24581968..24585190,3 | K562 | blood: | |
| 7 | chr3:24578631..24583271-chr3:24586680..24589577,4 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:11 , 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 | rs12632106 | chr3:24578982-24578983 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs539898131 | chr3:24579009-24579010 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs557885425 | chr3:24579010-24579011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs200915803 | chr3:24579019-24579020 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs548863276 | chr3:24579038-24579039 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs189505898 | chr3:24579045-24579046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs17014787 | chr3:24579077-24579078 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs116176033 | chr3:24579079-24579080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs12635598 | chr3:24579121-24579122 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs139850822 | chr3:24579124-24579125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs114897531 | chr3:24579126-24579127 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:69)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Neuroblastoma | 17327916 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Hirschsprung''s Disease | 21712996 | 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 |
| lymphocytic leukemia | 21291569 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Melanoma | 20688739 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:24566200-24591800 | Weak transcription | Psoas Muscle | Psoas |
| 2 | chr3:24575600-24579800 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
| 3 | chr3:24575800-24579600 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
| 4 | chr3:24575800-24580600 | Weak transcription | Colon Smooth Muscle | Colon |
| 5 | chr3:24577200-24579800 | Weak transcription | Stomach Mucosa | stomach |
| 6 | chr3:24578000-24581600 | Weak transcription | Rectal Smooth Muscle | rectum |
