Variant report
| Variant | esv14880 |
|---|---|
| Chromosome Location | chr8:4049447-4051991 |
| 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 | rs555800576 | chr8:4049454-4049455 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs13439849 | chr8:4049489-4049490 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 3 | rs565555163 | chr8:4049490-4049491 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs190815038 | chr8:4049493-4049494 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs73658449 | chr8:4049501-4049502 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs182961338 | chr8:4049502-4049503 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs59294797 | chr8:4049504-4049505 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs543725360 | chr8:4049507-4049508 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs17069308 | chr8:4049513-4049514 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs528254948 | chr8:4049521-4049522 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs546613847 | chr8:4049545-4049546 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs375876363 | chr8:4049558-4049559 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs571515049 | chr8:4049574-4049575 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs73512858 | chr8:4049593-4049594 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs368913352 | chr8:4049606-4049607 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs371766276 | chr8:4049622-4049623 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs188244211 | chr8:4049634-4049635 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs146820443 | chr8:4049654-4049655 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs140325074 | chr8:4049696-4049697 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs145427542 | chr8:4049702-4049703 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs148042772 | chr8:4049706-4049707 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs527851598 | chr8:4049710-4049711 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs73658450 | chr8:4049718-4049719 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs559035176 | chr8:4049719-4049720 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs73658451 | chr8:4049721-4049722 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs560537618 | chr8:4049723-4049724 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs73658452 | chr8:4049738-4049739 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs369632700 | chr8:4049742-4049743 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs374059373 | chr8:4049744-4049745 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs191459435 | chr8:4049766-4049767 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs541974988 | chr8:4049771-4049772 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs140877339 | chr8:4049811-4049812 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs528303635 | chr8:4049833-4049834 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs540411623 | chr8:4049846-4049847 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs150179156 | chr8:4049853-4049854 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs182789176 | chr8:4049863-4049864 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs17069310 | chr8:4049866-4049867 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 38 | rs568524952 | chr8:4049877-4049878 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs188223082 | chr8:4049881-4049882 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs548006487 | chr8:4049882-4049883 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs538643144 | chr8:4049911-4049912 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs138356261 | chr8:4049939-4049940 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs550210880 | chr8:4049943-4049944 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs534169841 | chr8:4049952-4049953 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs17069312 | chr8:4049955-4049956 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 46 | rs539379092 | chr8:4049961-4049962 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs571014112 | chr8:4049964-4049965 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs546836441 | chr8:4049967-4049968 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs142707415 | chr8:4049977-4049978 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs73658453 | chr8:4049978-4049979 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:126)
| 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 |
| 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 |
| 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 |
| Colorectal cancer | 16774939 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Colorectal cancer | 22014273 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | 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 |
| Schizophrenia | 21346763 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:4049000-4049800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr8:4049200-4049800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 3 | chr8:4049200-4050200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 4 | chr8:4049200-4050200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 5 | chr8:4049200-4050400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 6 | chr8:4049400-4049600 | Enhancers | H9 Cell Line | embryonic stem cell |
| 7 | chr8:4049400-4049600 | Flanking Active TSS | iPS-15b Cell Line | embryonic stem cell |
| 8 | chr8:4049400-4049800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 9 | chr8:4049400-4049800 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
| 10 | chr8:4049400-4049800 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 11 | chr8:4049400-4050000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 12 | chr8:4049400-4050600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 13 | chr8:4049400-4051200 | Enhancers | H1 Cell Line | embryonic stem cell |
| 14 | chr8:4049600-4049800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 15 | chr8:4049800-4050000 | Flanking Active TSS | iPS-15b Cell Line | embryonic stem cell |
| 16 | chr8:4049800-4050400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 17 | chr8:4049800-4051000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 18 | chr8:4049800-4054000 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 19 | chr8:4050000-4050600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 20 | chr8:4050400-4051800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 21 | chr8:4050600-4051000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 22 | chr8:4050600-4053800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 23 | chr8:4051000-4051200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 24 | chr8:4051000-4052800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 25 | chr8:4051200-4052000 | Enhancers | H9 Cell Line | embryonic stem cell |
| 26 | chr8:4051400-4053200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 27 | chr8:4051800-4052000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
