Variant report
| Variant | esv19218 |
|---|---|
| Chromosome Location | chr8:122239675-122240718 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs556291671 | chr8:122239678-122239679 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs529249124 | chr8:122239702-122239703 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs190725473 | chr8:122239704-122239705 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs113554604 | chr8:122239725-122239726 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs74342325 | chr8:122239745-122239746 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs71515987 | chr8:122239813-122239814 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs1504650 | chr8:122239821-122239822 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs183431981 | chr8:122239827-122239828 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs1504651 | chr8:122239844-122239845 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs199497981 | chr8:122239869-122239870 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs200261749 | chr8:122239870-122239871 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs554403417 | chr8:122239887-122239888 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs146226883 | chr8:122239922-122239923 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs56911112 | chr8:122239925-122239926 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs574254133 | chr8:122239935-122239936 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs541817465 | chr8:122239939-122239940 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs575323005 | chr8:122239948-122239949 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs187970903 | chr8:122239962-122239963 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs569414572 | chr8:122239966-122239967 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs369823555 | chr8:122240024-122240025 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs536582432 | chr8:122240034-122240035 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs554837950 | chr8:122240036-122240037 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs544300868 | chr8:122240063-122240064 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs1504652 | chr8:122240089-122240090 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 25 | rs147287882 | chr8:122240113-122240114 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs57814063 | chr8:122240139-122240140 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs397937585 | chr8:122240145-122240146 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs201718956 | chr8:122240146-122240147 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs193157936 | chr8:122240154-122240155 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs534280341 | chr8:122240197-122240198 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs1504653 | chr8:122240199-122240200 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 32 | rs548932075 | chr8:122240217-122240218 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs17265202 | chr8:122240218-122240219 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 34 | rs2174348 | chr8:122240292-122240293 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 35 | rs551459070 | chr8:122240293-122240294 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs34698310 | chr8:122240318-122240319 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 37 | rs17205796 | chr8:122240330-122240331 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 38 | rs138723033 | chr8:122240385-122240386 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs78774004 | chr8:122240398-122240399 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs367806376 | chr8:122240399-122240400 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs183299706 | chr8:122240416-122240417 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs41472446 | chr8:122240424-122240425 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs561121781 | chr8:122240435-122240436 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs17265314 | chr8:122240463-122240464 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 45 | rs16894954 | chr8:122240490-122240491 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 46 | rs557796593 | chr8:122240497-122240498 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs17205915 | chr8:122240511-122240512 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 48 | rs540397244 | chr8:122240524-122240525 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs2174349 | chr8:122240550-122240551 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 50 | rs368960640 | chr8:122240569-122240570 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:136)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Seminomas | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| abnormal development | 18461090 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Langer-Giedion syndrome | 22283845 | CNVD |
| Cancer | 21637783 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Cancer | 22429812 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Breast cancer | 22028636 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 16751803 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| head and neck squamous cell carcinoma | 18028549 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 21399628 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Congenital diaphragmatic hernia | 21525063 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Papillary thyroid cancer | 17515504 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Breast cancer | 20932292 | CNVD |
| Gastric cancer | 22539939 | CNVD |
| Breast cancer | 22056952 | CNVD |
| Langer-Giedion syndrome | 16773131 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Mental retardation | 16773131 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Langer-Giedion syndrome | 22470819 | CNVD |
| Cornelia de Lange syndrome | 24599119 | CNVD |
| Gastric cancer | 21528007 | CNVD |
| Breast cancer | 22532251 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Cancer | 21129771 | CNVD |
| benign familial neonatal convulsions | 18472482 | CNVD |
| Breast cancer | 16417655 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Cancer | 21183584 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Breast cancer | 20814816 | CNVD |
| Colorectal cancer | 22486879 | CNVD |
| Breast cancer | 17908964 | CNVD |
| Colorectal cancer | 20031965 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Ovarian cancer | 17908964 | CNVD |
| Ovarian cancer | 20031965 | CNVD |
| Prostate cancer | 20031965 | CNVD |
| Non-small cell lung cancer | 17643093 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Breast cancer | 18698023 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| head and neck squamous cell carcinoma | 16740747 | CNVD |
| Breast cancer | 19181860 | CNVD |
| Endometrial cancer | 23636398 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Oral squamous cell carcinoma | 21853135 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:122236000-122240200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr8:122239000-122240600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 3 | chr8:122239200-122240400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr8:122239200-122240600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 5 | chr8:122239400-122240200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 6 | chr8:122239600-122240000 | Enhancers | H1 Cell Line | embryonic stem cell |
| 7 | chr8:122239600-122240400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 8 | chr8:122240000-122240400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 9 | chr8:122240600-122246000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
