Variant report
| Variant | esv3337513 |
|---|---|
| Chromosome Location | chr7:64067178-64067666 |
| 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 | rs112800455 | chr7:64067183-64067184 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs565761706 | chr7:64067203-64067204 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs117600821 | chr7:64067214-64067215 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs550943492 | chr7:64067236-64067237 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs552948194 | chr7:64067243-64067244 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs566660018 | chr7:64067260-64067261 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs535243095 | chr7:64067286-64067287 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs570873885 | chr7:64067291-64067292 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs146063532 | chr7:64067332-64067333 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs78848266 | chr7:64067349-64067350 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs1348867 | chr7:64067357-64067358 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 12 | rs62462868 | chr7:64067380-64067381 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs188590057 | chr7:64067418-64067419 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs140052564 | chr7:64067459-64067460 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs545454080 | chr7:64067474-64067475 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs565295972 | chr7:64067539-64067540 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs575683670 | chr7:64067540-64067541 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs544927097 | chr7:64067542-64067543 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs1548068 | chr7:64067562-64067563 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs193164583 | chr7:64067593-64067594 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs533982361 | chr7:64067621-64067622 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs547146250 | chr7:64067654-64067655 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs528697688 | chr7:64067661-64067662 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:76)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| 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 |
| 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 |
| Autism | 22495311 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Williams-beuren syndrome | 22470819 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Cancer | 21183584 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Gastric cancer | 24379144 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Hodgkin''s lymphoma | 18641027 | 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 |
| Glioblastoma | 21080181 | 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 |
| Breast cancer | 21990379 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:64059200-64076200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 2 | chr7:64059400-64076400 | Strong transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr7:64059600-64067400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 4 | chr7:64062800-64077400 | Weak transcription | Fetal Heart | heart |
| 5 | chr7:64064600-64068400 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 6 | chr7:64065400-64069400 | Weak transcription | Placenta | Placenta |
| 7 | chr7:64065400-64076800 | Weak transcription | Fetal Stomach | stomach |
| 8 | chr7:64066200-64073000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
