Variant report
| Variant | esv2450559 |
|---|---|
| Chromosome Location | chr7:119042963-119044595 |
| 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:32 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs182226112 | chr7:119044001-119044002 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs562184177 | chr7:119044052-119044053 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs527799848 | chr7:119044065-119044066 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs141053284 | chr7:119044077-119044078 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs187194629 | chr7:119044090-119044091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs188042615 | chr7:119044095-119044096 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs564326722 | chr7:119044170-119044171 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs533199329 | chr7:119044185-119044186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs145147650 | chr7:119044204-119044205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs570045214 | chr7:119044205-119044206 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs146886727 | chr7:119044226-119044227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs1484947 | chr7:119044243-119044244 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs568110872 | chr7:119044260-119044261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs111481887 | chr7:119044263-119044264 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs540552477 | chr7:119044281-119044282 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs180909375 | chr7:119044288-119044289 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs73209852 | chr7:119044313-119044314 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs539475416 | chr7:119044330-119044331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs556477323 | chr7:119044336-119044337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs576843082 | chr7:119044363-119044364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs6466697 | chr7:119044387-119044388 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs117339808 | chr7:119044396-119044397 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs373566510 | chr7:119044402-119044403 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs185215459 | chr7:119044418-119044419 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs572455603 | chr7:119044427-119044428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs541162637 | chr7:119044533-119044534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs564643638 | chr7:119044535-119044536 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs559946610 | chr7:119044540-119044541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs190028293 | chr7:119044571-119044572 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs7798719 | chr7:119044579-119044580 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 31 | rs532061221 | chr7:119044586-119044587 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs563609229 | chr7:119044588-119044589 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:82)
| 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 |
| 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 |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Medulloblastoma | 16783165 | 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 |
| Non-small cell lung cancer | 19889201 | CNVD |
| Acute myeloid leukemia | 18000384 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Metastatic melanoma | 18483359 | CNVD |
| Autism | 18414403 | CNVD |
| Autism | 19401682 | CNVD |
| Autism | 19546859 | CNVD |
| Schizophrenia | 19546859 | CNVD |
| Tourette syndrome | 19546859 | CNVD |
| Melanoma | 19188590 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Hepatocellular carcinoma | 16785998 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:119044000-119046800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
