Variant report
| Variant | esv3394341 |
|---|---|
| Chromosome Location | chr7:13789654-13790200 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs532518073 | chr7:13789676-13789677 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs369255782 | chr7:13789706-13789707 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs570838053 | chr7:13789740-13789741 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs539767074 | chr7:13789777-13789778 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs556406379 | chr7:13789822-13789823 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs576239849 | chr7:13789828-13789829 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs6461045 | chr7:13789913-13789914 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs555487206 | chr7:13789933-13789934 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs144692760 | chr7:13789951-13789952 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs146718040 | chr7:13789956-13789957 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs6461046 | chr7:13789968-13789969 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs372448440 | chr7:13789969-13789970 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs140271643 | chr7:13790011-13790012 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs532918457 | chr7:13790066-13790067 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs6461047 | chr7:13790092-13790093 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs531701780 | chr7:13790100-13790101 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs529131366 | chr7:13790119-13790120 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs554242683 | chr7:13790125-13790126 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs548603876 | chr7:13790149-13790150 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs548894250 | chr7:13790150-13790151 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs568574247 | chr7:13790164-13790165 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs527762117 | chr7:13790181-13790182 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs547458170 | chr7:13790187-13790188 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:81)
| Disease | PMID | Source |
|---|---|---|
| Melanoma | 18172304 | 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Leukemia | 23979775 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Autism | 22495311 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Melanoma | 17363583 | CNVD |
| Kartagener syndrome | 16639409 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Medulloblastoma | 17653508 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Autism | 18414403 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Pleomorphic liposarcoma | 18784837 | 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 |
| Myelofibrosis | 22110671 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:13786800-13790200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 2 | chr7:13787400-13789800 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 3 | chr7:13788400-13789800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 4 | chr7:13788600-13789800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 5 | chr7:13788800-13790200 | Enhancers | H9 Cell Line | embryonic stem cell |
| 6 | chr7:13789000-13790200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 7 | chr7:13789200-13790000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 8 | chr7:13789400-13790000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 9 | chr7:13789400-13790800 | Weak transcription | Fetal Lung | lung |
| 10 | chr7:13789400-13791400 | Weak transcription | Fetal Brain Male | brain |
