Variant report
| Variant | esv3432216 |
|---|---|
| Chromosome Location | chr8:3379744-3383542 |
| 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 | rs531959290 | chr8:3379768-3379769 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs115175538 | chr8:3379779-3379780 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs568853194 | chr8:3379807-3379808 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs548338749 | chr8:3379817-3379818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs529911874 | chr8:3379832-3379833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs544011283 | chr8:3379834-3379835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs548035028 | chr8:3379839-3379840 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs191877990 | chr8:3379846-3379847 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs534114039 | chr8:3379848-3379849 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs558867381 | chr8:3379851-3379852 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs371931827 | chr8:3379882-3379883 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs570902082 | chr8:3379906-3379907 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs182952617 | chr8:3379918-3379919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs201363729 | chr8:3379925-3379926 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs574791810 | chr8:3379937-3379938 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs186874450 | chr8:3379946-3379947 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs554040016 | chr8:3379972-3379973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs572585660 | chr8:3379979-3379980 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs145491947 | chr8:3379986-3379987 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs564439794 | chr8:3379990-3379991 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs532022874 | chr8:3380015-3380016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs543767230 | chr8:3380020-3380021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs192653827 | chr8:3380022-3380023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs141174462 | chr8:3380024-3380025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs146924993 | chr8:3380034-3380035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs184992687 | chr8:3380057-3380058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs115153503 | chr8:3380060-3380061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs147650219 | chr8:3380077-3380078 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs570718533 | chr8:3380096-3380097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs189160512 | chr8:3380107-3380108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs192795715 | chr8:3380110-3380111 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs568557793 | chr8:3380122-3380123 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs535611178 | chr8:3380151-3380152 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs184757048 | chr8:3380164-3380165 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs142290432 | chr8:3380176-3380177 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs112226973 | chr8:3380202-3380203 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs558042122 | chr8:3380205-3380206 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs73658150 | chr8:3380230-3380231 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 39 | rs189480493 | chr8:3380240-3380241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs562375637 | chr8:3380242-3380243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs574351123 | chr8:3380254-3380255 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs73658151 | chr8:3380260-3380261 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 43 | rs560181935 | chr8:3380264-3380265 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs527491421 | chr8:3380296-3380297 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs143168979 | chr8:3380325-3380326 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs377242336 | chr8:3380329-3380330 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs531601357 | chr8:3380335-3380336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs181517185 | chr8:3380336-3380337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs568392243 | chr8:3380347-3380348 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs541076873 | chr8:3380353-3380354 | 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 |
| 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 |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Chordoma | 21215367 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:3377200-3381000 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr8:3377200-3381000 | Weak transcription | Pancreas | Pancrea |
| 3 | chr8:3378400-3381200 | Weak transcription | Gastric | stomach |
| 4 | chr8:3380400-3381000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 5 | chr8:3381000-3381800 | ZNF genes & repeats | Fetal Heart | heart |
| 6 | chr8:3381000-3381800 | ZNF genes & repeats | A549 | lung |
| 7 | chr8:3381000-3382000 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
| 8 | chr8:3381000-3382000 | ZNF genes & repeats | Fetal Lung | lung |
| 9 | chr8:3381000-3382200 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 10 | chr8:3381000-3382200 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 11 | chr8:3381000-3382200 | ZNF genes & repeats | Duodenum Mucosa | Duodenum |
| 12 | chr8:3381000-3382200 | ZNF genes & repeats | Esophagus | oesophagus |
| 13 | chr8:3381000-3382200 | ZNF genes & repeats | Fetal Kidney | kidney |
| 14 | chr8:3381000-3382200 | ZNF genes & repeats | Pancreas | Pancrea |
| 15 | chr8:3381200-3381600 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
| 16 | chr8:3381200-3381600 | Active TSS | Spleen | Spleen |
| 17 | chr8:3381200-3382000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 18 | chr8:3381200-3382200 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 19 | chr8:3381200-3382200 | ZNF genes & repeats | Gastric | stomach |
| 20 | chr8:3381200-3382400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 21 | chr8:3381400-3382200 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 22 | chr8:3381400-3382200 | Enhancers | Brain Dorsolateral Prefrontal Cortex | brain |
| 23 | chr8:3381600-3382200 | ZNF genes & repeats | Fetal Brain Male | brain |
| 24 | chr8:3382000-3382400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 25 | chr8:3382400-3382600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
