Variant report
| Variant | esv2757000 |
|---|---|
| Chromosome Location | chr3:78453937-78497118 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs6775537 | chr3:78453937-78453938 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs557427344 | chr3:78453940-78453941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs577517441 | chr3:78453958-78453959 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs540107350 | chr3:78453987-78453988 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs559929229 | chr3:78454023-78454024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs187681624 | chr3:78454046-78454047 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs557201118 | chr3:78454049-78454050 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542387851 | chr3:78454054-78454055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs563048052 | chr3:78454057-78454058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs558430105 | chr3:78454128-78454129 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs373302236 | chr3:78454142-78454143 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs191359788 | chr3:78454162-78454163 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs184569063 | chr3:78454185-78454186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs374788310 | chr3:78454191-78454192 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs573151567 | chr3:78454197-78454198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs13084001 | chr3:78454231-78454232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs576396637 | chr3:78454233-78454234 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs6548558 | chr3:78454235-78454236 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs535860613 | chr3:78454269-78454270 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs370093850 | chr3:78454273-78454274 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs567944853 | chr3:78454278-78454279 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs56207238 | chr3:78454312-78454313 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs550098062 | chr3:78454343-78454344 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs141742274 | chr3:78454344-78454345 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs537495705 | chr3:78454391-78454392 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs557755882 | chr3:78454419-78454420 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs577181576 | chr3:78454429-78454430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs533527033 | chr3:78454435-78454436 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs553675580 | chr3:78454505-78454506 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs147090943 | chr3:78454529-78454530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs7646569 | chr3:78454557-78454558 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 32 | rs7624583 | chr3:78454597-78454598 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 33 | rs147737628 | chr3:78454605-78454606 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs545145316 | chr3:78454616-78454617 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs565297612 | chr3:78454626-78454627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs7636376 | chr3:78454640-78454641 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 37 | rs547791820 | chr3:78454645-78454646 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs77465794 | chr3:78454646-78454647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs184500608 | chr3:78454649-78454650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs530376619 | chr3:78454660-78454661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs578107091 | chr3:78454662-78454663 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs550351511 | chr3:78454678-78454679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs543794022 | chr3:78454681-78454682 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs570121209 | chr3:78454696-78454697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs142651710 | chr3:78454705-78454706 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs551220681 | chr3:78454706-78454707 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs9309799 | chr3:78454716-78454717 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 48 | rs76195312 | chr3:78454744-78454745 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs553345869 | chr3:78454765-78454766 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs148187810 | chr3:78454818-78454819 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:77)
| Disease | PMID | Source |
|---|---|---|
| Acute myeloid leukemia | 20729466 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Melanoma | 18172304 | 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 |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Hirschsprung''s Disease | 21712996 | 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 |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Autism | 22102821 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Soft tissue tumor | 16732325 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:78452600-78455400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 2 | chr3:78455400-78456000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 3 | chr3:78462400-78462600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr3:78463200-78463400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 5 | chr3:78470400-78471400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 6 | chr3:78470400-78471400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 7 | chr3:78470400-78471400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 8 | chr3:78470400-78471600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 9 | chr3:78470600-78472000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 10 | chr3:78471000-78472400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 11 | chr3:78471400-78472600 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 12 | chr3:78472400-78473200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 13 | chr3:78473000-78473200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 14 | chr3:78473200-78473400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 15 | chr3:78475400-78476000 | Enhancers | Pancreatic Islets | Pancreatic Islet |
| 16 | chr3:78486800-78487000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 17 | chr3:78487200-78490600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 18 | chr3:78490600-78491200 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
| 19 | chr3:78491200-78496200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 20 | chr3:78495800-78496600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
