Variant report
| Variant | esv3433481 |
|---|---|
| Chromosome Location | chr7:39567893-39568271 |
| 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 | chr7:39567068..39569157-chr7:39570895..39573557,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:12 , 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 | rs2876843 | chr7:39567926-39567927 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs561482034 | chr7:39567967-39567968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs112320570 | chr7:39568031-39568032 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs574025363 | chr7:39568032-39568033 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs567009018 | chr7:39568070-39568071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs574897387 | chr7:39568103-39568104 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs144487480 | chr7:39568121-39568122 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs148436494 | chr7:39568185-39568186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs569298958 | chr7:39568212-39568213 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs557185914 | chr7:39568234-39568235 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs13229340 | chr7:39568245-39568246 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs185551895 | chr7:39568249-39568250 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:80)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Cancer | 16751803 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Glioma | 21971842 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Oral cancer | 21386901 | CNVD |
| colon cancer | 17210682 | CNVD |
| Lung adenocarcinoma | 21810691 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Hypothalamic hamartomas | 18252217 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 19415332 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Malaria | 21533027 | CNVD |
| Melanoma | 18172304 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Lung cancer | 18438408 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Autism | 22495311 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Cancer | 21637783 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Williams-beuren syndrome | 22470819 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Breast cancer | 21364760 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 17237825 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Colorectal cancer | 19455253 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Gastric cancer | 24379144 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| abnormal development | 18461090 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:39567200-39569600 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 2 | chr7:39567200-39573200 | Weak transcription | Small Intestine | intestine |
| 3 | chr7:39567400-39568200 | Weak transcription | Fetal Intestine Large | intestine |
| 4 | chr7:39567400-39568400 | Weak transcription | Fetal Intestine Small | intestine |
| 5 | chr7:39568200-39571000 | Enhancers | Dnd41 | blood |
| 6 | chr7:39568200-39576400 | Enhancers | Fetal Intestine Large | intestine |
