Variant report
| Variant | esv3462356 |
|---|---|
| Chromosome Location | chr3:112556443-112557178 |
| 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 | chr3:112554571..112556501-chr3:112708571..112710291,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000272844 | chromatin interactions |
| ENSG00000163607 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:23 , 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 | rs9810046 | chr3:112556474-112556475 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 2 | rs528504067 | chr3:112556538-112556539 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs572572769 | chr3:112556552-112556553 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs535176734 | chr3:112556553-112556554 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs555142921 | chr3:112556595-112556596 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs574985311 | chr3:112556597-112556598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs181564546 | chr3:112556610-112556611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs563520886 | chr3:112556618-112556619 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs140226805 | chr3:112556624-112556625 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs374030489 | chr3:112556649-112556650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs150452513 | chr3:112556671-112556672 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs528279309 | chr3:112556800-112556801 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs6795521 | chr3:112556904-112556905 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 14 | rs7639955 | chr3:112556922-112556923 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs6770923 | chr3:112556946-112556947 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 16 | rs535228174 | chr3:112556960-112556961 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs530499324 | chr3:112556969-112556970 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs550582954 | chr3:112557002-112557003 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs375335914 | chr3:112557009-112557010 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs556737519 | chr3:112557031-112557032 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs184333446 | chr3:112557078-112557079 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs370588446 | chr3:112557091-112557092 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs145313874 | chr3:112557146-112557147 | 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 |
| 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 |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | 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 |
| Neurodevelopmental disorder | 22521361 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| microdeletion syndrome | 22180640 | 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 |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 16608533 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Developmental delay | 22180640 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Attention deficit hyperactivity disorder | 22180640 | CNVD |
| Breast cancer | 17142309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:112555200-112560400 | Weak transcription | Pancreas | Pancrea |
