Variant report
| Variant | esv16492 |
|---|---|
| Chromosome Location | chr8:5150393-5161603 |
| 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 |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs10100035 | chr8:5150402-5150403 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs572195880 | chr8:5150415-5150416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs376243626 | chr8:5150423-5150424 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs75800159 | chr8:5150430-5150431 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs75336570 | chr8:5150443-5150444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs138890481 | chr8:5150449-5150450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs374734463 | chr8:5150457-5150458 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs561844445 | chr8:5150464-5150465 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs142024709 | chr8:5150489-5150490 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs12548405 | chr8:5150496-5150497 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs10100174 | chr8:5150501-5150502 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs533039736 | chr8:5150513-5150514 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs551524054 | chr8:5150533-5150534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs528182697 | chr8:5150542-5150543 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs571024389 | chr8:5150547-5150548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs10100197 | chr8:5150564-5150565 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs12546222 | chr8:5150575-5150576 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs76836370 | chr8:5150576-5150577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs536188019 | chr8:5150585-5150586 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs191331189 | chr8:5150606-5150607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs144569188 | chr8:5150610-5150611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs148443371 | chr8:5150620-5150621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs557845300 | chr8:5150631-5150632 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs553540700 | chr8:5150642-5150643 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs542816375 | chr8:5150649-5150650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs563103817 | chr8:5150651-5150652 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs543253829 | chr8:5150657-5150658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs371776513 | chr8:5150662-5150663 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs555583052 | chr8:5150671-5150672 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs138615295 | chr8:5150672-5150673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs550602431 | chr8:5150690-5150691 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs573839945 | chr8:5150695-5150696 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs541346698 | chr8:5150746-5150747 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs559363204 | chr8:5150758-5150759 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs375730159 | chr8:5150773-5150774 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs141792562 | chr8:5150782-5150783 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs150579889 | chr8:5150797-5150798 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs545087510 | chr8:5150804-5150805 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs531856609 | chr8:5150815-5150816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs140320115 | chr8:5150819-5150820 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs144234320 | chr8:5150849-5150850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs375721148 | chr8:5150850-5150851 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs568670042 | chr8:5150863-5150864 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs77395279 | chr8:5150897-5150898 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs7815253 | chr8:5150901-5150902 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 46 | rs73659780 | chr8:5150922-5150923 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 47 | rs558513077 | chr8:5150925-5150926 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs112519202 | chr8:5150948-5150949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs72288027 | chr8:5150949-5150950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs386411956 | chr8:5150960-5150961 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:124)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| abnormal development | 18461090 | CNVD |
| Crohn''s disease | 19220326 | CNVD |
| Psoriasis | 19220326 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Prostate cancer | 18515986 | CNVD |
| Chronic obstructive pulmonary disease | 20378733 | CNVD |
| Autism | 18414403 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Cervical cancer | 17311676 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Schizophrenia | 20877625 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Heart disease | 21282601 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 22429812 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| Breast cancer | 20940404 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| 8p-syndrome | 17576883 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Cancer | 16751803 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21509527 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Epilepsy | 22083797 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Congenital diaphragmatic hernia | 21064195 | CNVD |
| Cancer | 20164920 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Developmental delay | 19128483 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Leukoplakia | 24403051 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Seminomas | 18059402 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| Cancer | 20164919 | CNVD |
| Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Tetralogy of Fallot | 22912587 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Type 2 diabetes | 21526130 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:5149800-5150400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 2 | chr8:5150200-5157400 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 3 | chr8:5154800-5155200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr8:5157400-5157600 | Enhancers | H9 Cell Line | embryonic stem cell |
| 5 | chr8:5157800-5159400 | Enhancers | Fetal Muscle Leg | muscle |
| 6 | chr8:5158600-5158800 | Enhancers | H9 Cell Line | embryonic stem cell |
| 7 | chr8:5158600-5159000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
