Variant report
| Variant | esv3425268 |
|---|---|
| Chromosome Location | chr7:136634409-136634912 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs548984178 | chr7:136634473-136634474 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs35575870 | chr7:136634490-136634491 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs78781054 | chr7:136634491-136634492 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs74764364 | chr7:136634502-136634503 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs201935314 | chr7:136634503-136634504 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs74934612 | chr7:136634504-136634505 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs569178477 | chr7:136634513-136634514 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs112144176 | chr7:136634539-136634540 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs147438276 | chr7:136634549-136634550 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs148479562 | chr7:136634551-136634552 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs539567563 | chr7:136634556-136634557 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs17168824 | chr7:136634627-136634628 | Weak transcription Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs547261624 | chr7:136634628-136634629 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs75517010 | chr7:136634701-136634702 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs539467709 | chr7:136634754-136634755 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs142622553 | chr7:136634761-136634762 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs555784463 | chr7:136634762-136634763 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs575936151 | chr7:136634777-136634778 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs114710856 | chr7:136634797-136634798 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs575969360 | chr7:136634870-136634871 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs201469534 | chr7:136634879-136634880 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:83)
| 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 |
| 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 |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Melanoma | 19188590 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| abnormal development | 18461090 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Coffin-Siris syndrome | 21572526 | CNVD |
| Papillary thyroid carcinoma | 21436994 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Low-grade fibromyxoid sarcoma | 21536545 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Stuttering | 21108403 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Myelodysplastic syndrome | 17634407 | CNVD |
| Acute myeloid leukemia | 17237825 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:136607800-136638000 | Weak transcription | NHLF | lung |
| 2 | chr7:136623400-136641600 | Weak transcription | Right Ventricle | heart |
| 3 | chr7:136623600-136641600 | Weak transcription | Left Ventricle | heart |
| 4 | chr7:136631600-136636400 | Genic enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
| 5 | chr7:136631800-136635800 | Weak transcription | Colon Smooth Muscle | Colon |
| 6 | chr7:136633400-136635000 | Weak transcription | Fetal Heart | heart |
| 7 | chr7:136633800-136635800 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 8 | chr7:136633800-136641400 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 9 | chr7:136634000-136638400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
