Variant report
| Variant | esv3363247 |
|---|---|
| Chromosome Location | chr7:108691961-108692407 |
| 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:28 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs542364024 | chr7:108691980-108691981 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs562143946 | chr7:108691998-108691999 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs186766232 | chr7:108692003-108692004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs77417764 | chr7:108692027-108692028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs73713343 | chr7:108692041-108692042 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs374430168 | chr7:108692064-108692065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs192625261 | chr7:108692080-108692081 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs561318036 | chr7:108692116-108692117 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs114451928 | chr7:108692124-108692125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs567356127 | chr7:108692143-108692144 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs151289096 | chr7:108692147-108692148 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs549545729 | chr7:108692168-108692169 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs200998001 | chr7:108692183-108692184 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs569264641 | chr7:108692187-108692188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs74522722 | chr7:108692194-108692195 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs77554838 | chr7:108692196-108692197 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs76614027 | chr7:108692197-108692198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs538276911 | chr7:108692222-108692223 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs185071962 | chr7:108692254-108692255 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs371357795 | chr7:108692255-108692256 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs11971233 | chr7:108692270-108692271 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs113992900 | chr7:108692271-108692272 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs11971282 | chr7:108692272-108692273 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs574201954 | chr7:108692331-108692332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs542701275 | chr7:108692348-108692349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs34563866 | chr7:108692352-108692353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs188338114 | chr7:108692387-108692388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs531827178 | chr7:108692392-108692393 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:84)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | 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 |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Low-grade fibromyxoid sarcoma | 0 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Shwachman-Diamond syndrome | 22934832 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Cutaneous malignant melanoma | 17690212 | CNVD |
| Leukemia | 17361228 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Malignant melanoma | 17690212 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 21364760 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Melanoma | 17363583 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Prostate cancer | 23792589 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Autism | 19401682 | CNVD |
| Non-small cell lung cancer | 19889201 | CNVD |
| Acute myeloid leukemia | 18000384 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Metastatic melanoma | 18483359 | CNVD |
| Autism | 18414403 | CNVD |
| Autism | 19546859 | CNVD |
| Schizophrenia | 19546859 | CNVD |
| Tourette syndrome | 19546859 | CNVD |
| Melanoma | 19188590 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:108689800-108693600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
