Variant report
| Variant | esv3425777 |
|---|---|
| Chromosome Location | chr7:3334840-3335316 |
| 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:31 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs537307907 | chr7:3334840-3334841 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs71527438 | chr7:3334856-3334857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs12533417 | chr7:3334859-3334860 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs117883403 | chr7:3334874-3334875 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs563939045 | chr7:3334887-3334888 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs539263168 | chr7:3334888-3334889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs574458048 | chr7:3334891-3334892 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs368517823 | chr7:3334896-3334897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs9986770 | chr7:3334953-3334954 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 10 | rs572234481 | chr7:3334964-3334965 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs9986971 | chr7:3334972-3334973 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 12 | rs554988722 | chr7:3334990-3334991 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs61046805 | chr7:3335020-3335021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs71029662 | chr7:3335036-3335037 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs9986772 | chr7:3335041-3335042 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs544066219 | chr7:3335043-3335044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs372958455 | chr7:3335088-3335089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs563988574 | chr7:3335106-3335107 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs200518997 | chr7:3335113-3335114 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs532737613 | chr7:3335118-3335119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs77636819 | chr7:3335123-3335124 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs559491081 | chr7:3335133-3335134 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs145374465 | chr7:3335134-3335135 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs530198480 | chr7:3335135-3335136 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs200143434 | chr7:3335136-3335137 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs71550396 | chr7:3335137-3335138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs201234710 | chr7:3335140-3335141 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs182098338 | chr7:3335159-3335160 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs2177765 | chr7:3335218-3335219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs5881971 | chr7:3335249-3335250 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs547987953 | chr7:3335316-3335317 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:81)
| Disease | PMID | Source |
|---|---|---|
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Chordoma | 21602918 | CNVD |
| Lynch syndrome | 22585707 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Raine Syndrome | 17924334 | CNVD |
| Diffuse large b-cell lymphoma | 21266526 | CNVD |
| Melanoma | 18172304 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Glioma | 18556773 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| 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 |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Nasopharyngeal cancer | 20548289 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Leukemia | 23979775 | CNVD |
| Spondylocostal dysostosis | 21085971 | CNVD |
| Mental retardation | 17901693 | CNVD |
| Heart disease | 21282601 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Cancer | 20164920 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Intellectual disability | 21811512 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:3334800-3336600 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr7:3334800-3336800 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 3 | chr7:3334800-3337000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 4 | chr7:3334800-3338400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 5 | chr7:3334800-3339600 | Weak transcription | Pancreas | Pancrea |
| 6 | chr7:3335000-3336600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 7 | chr7:3335000-3340000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
