Variant report
| Variant | esv3392739 |
|---|---|
| Chromosome Location | chr8:3061845-3066043 |
| 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 | rs548184495 | chr8:3061884-3061885 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs372732461 | chr8:3061886-3061887 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs568410741 | chr8:3061907-3061908 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs536969507 | chr8:3061916-3061917 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs201036111 | chr8:3061921-3061922 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs373149339 | chr8:3061922-3061923 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs557254030 | chr8:3061928-3061929 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs80069499 | chr8:3061933-3061934 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs398047046 | chr8:3061934-3061935 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs200303143 | chr8:3061935-3061936 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs570642410 | chr8:3061936-3061937 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs539930043 | chr8:3061960-3061961 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs1442398 | chr8:3061993-3061994 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 14 | rs572978307 | chr8:3061996-3061997 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs185178161 | chr8:3062003-3062004 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs555422840 | chr8:3062020-3062021 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs368169064 | chr8:3062040-3062041 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs543847160 | chr8:3062063-3062064 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs564050734 | chr8:3062064-3062065 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs371009103 | chr8:3062071-3062072 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs557933423 | chr8:3062073-3062074 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs545987999 | chr8:3062096-3062097 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs375127150 | chr8:3062107-3062108 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs117875897 | chr8:3062114-3062115 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs548251160 | chr8:3062118-3062119 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs573968176 | chr8:3062149-3062150 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs142506938 | chr8:3062155-3062156 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs146733457 | chr8:3062159-3062160 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs570771362 | chr8:3062183-3062184 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs539697459 | chr8:3062192-3062193 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs546827578 | chr8:3062194-3062195 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs566638707 | chr8:3062216-3062217 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs535621624 | chr8:3062228-3062229 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs138767209 | chr8:3062254-3062255 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs189887226 | chr8:3062258-3062259 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs573209657 | chr8:3062265-3062266 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs537893000 | chr8:3062269-3062270 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs557419144 | chr8:3062284-3062285 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs554273566 | chr8:3062289-3062290 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs77289125 | chr8:3062292-3062293 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs78288780 | chr8:3062303-3062304 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs149270706 | chr8:3062337-3062338 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs573131452 | chr8:3062345-3062346 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs112873771 | chr8:3062443-3062444 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs542006352 | chr8:3062464-3062465 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs117089257 | chr8:3062469-3062470 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs530906820 | chr8:3062470-3062471 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs118082155 | chr8:3062486-3062487 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs77130499 | chr8:3062524-3062525 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs545164906 | chr8:3062572-3062573 | Enhancers 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 |
| Cancer | 20164919 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ductal carcinoma | 22052326 | 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 |
| Ovarian cancer | 22355333 | CNVD |
| Breast cancer | 21364760 | 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 |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Schizophrenia | 19805367 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Colorectal cancer | 22014273 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:3060400-3076000 | Weak transcription | Brain Angular Gyrus | brain |
| 2 | chr8:3060800-3062800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 3 | chr8:3060800-3062800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr8:3061000-3063000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 5 | chr8:3061200-3062600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 6 | chr8:3061200-3062800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 7 | chr8:3061200-3063200 | Enhancers | H1 Cell Line | embryonic stem cell |
| 8 | chr8:3061400-3062800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 9 | chr8:3061400-3063000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 10 | chr8:3061800-3062200 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 11 | chr8:3062200-3062800 | Enhancers | H9 Cell Line | embryonic stem cell |
| 12 | chr8:3062800-3072000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
