Variant report
| Variant | esv3382795 |
|---|---|
| Chromosome Location | chr7:110346366-110352964 |
| 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:29 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs532437354 | chr7:110352600-110352601 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs566041614 | chr7:110352609-110352610 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs534754262 | chr7:110352610-110352611 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs548453053 | chr7:110352635-110352636 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs9801147 | chr7:110352643-110352644 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs568222004 | chr7:110352650-110352651 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs12705724 | chr7:110352665-110352666 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs9801349 | chr7:110352669-110352670 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs6972665 | chr7:110352714-110352715 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs537344807 | chr7:110352723-110352724 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs543460821 | chr7:110352730-110352731 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs557165127 | chr7:110352737-110352738 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs570674062 | chr7:110352740-110352741 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs9801152 | chr7:110352741-110352742 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs555470028 | chr7:110352774-110352775 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs9801150 | chr7:110352779-110352780 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs6952905 | chr7:110352840-110352841 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs572788411 | chr7:110352841-110352842 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs540937904 | chr7:110352862-110352863 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs541420025 | chr7:110352869-110352870 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs555348459 | chr7:110352879-110352880 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs559512314 | chr7:110352886-110352887 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs6952923 | chr7:110352911-110352912 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs6953061 | chr7:110352923-110352924 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs6952931 | chr7:110352932-110352933 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs373759911 | chr7:110352944-110352945 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs545887643 | chr7:110352954-110352955 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs559629168 | chr7:110352955-110352956 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs200749153 | chr7:110352957-110352958 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:90)
| 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 |
| T-cell lymphomas | 22341440 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:110346200-110346400 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 2 | chr7:110352600-110353000 | Active TSS | iPS-15b Cell Line | embryonic stem cell |
| 3 | chr7:110352600-110353600 | Active TSS | H9 Cell Line | embryonic stem cell |
| 4 | chr7:110352800-110353400 | Active TSS | iPS DF 6.9 Cell Line | embryonic stem cell |
| 5 | chr7:110352800-110354600 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
