Variant report
| Variant | esv3480047 |
|---|---|
| Chromosome Location | chr8:130140925-130145212 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:130142319..130144172-chr8:130152897..130155055,2 | MCF-7 | breast: | |
| 2 | chr8:130144005..130147540-chr8:130149814..130152182,3 | K562 | blood: | |
| 3 | chr8:130133687..130135596-chr8:130141322..130143040,2 | K562 | blood: | |
| 4 | chr8:130141276..130144083-chr8:130203489..130205820,2 | K562 | blood: |
| 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 | rs78790144 | chr8:130140934-130140935 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs533842903 | chr8:130140936-130140937 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs536974004 | chr8:130140976-130140977 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs568471336 | chr8:130140978-130140979 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs529642810 | chr8:130140988-130140989 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs547826937 | chr8:130140996-130140997 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs142618260 | chr8:130140997-130140998 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs533683981 | chr8:130141004-130141005 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs535147101 | chr8:130141031-130141032 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs187122107 | chr8:130141089-130141090 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs570978751 | chr8:130141157-130141158 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs190705071 | chr8:130141248-130141249 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs538506870 | chr8:130141282-130141283 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs183291186 | chr8:130141364-130141365 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs574840603 | chr8:130141405-130141406 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs186454941 | chr8:130141492-130141493 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs62525752 | chr8:130141512-130141513 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs146914172 | chr8:130141548-130141549 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs147921658 | chr8:130141586-130141587 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs182453030 | chr8:130141650-130141651 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs368297926 | chr8:130141660-130141661 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs544053442 | chr8:130141669-130141670 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs561563663 | chr8:130141695-130141696 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs34822473 | chr8:130141701-130141702 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs569668894 | chr8:130141767-130141768 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs529977239 | chr8:130141777-130141778 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs187972769 | chr8:130141779-130141780 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs35546555 | chr8:130141796-130141797 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs527352498 | chr8:130141820-130141821 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs556970003 | chr8:130141827-130141828 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs556257712 | chr8:130141856-130141857 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs552003405 | chr8:130141874-130141875 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs77232285 | chr8:130141916-130141917 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs76241882 | chr8:130141921-130141922 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs556844809 | chr8:130141952-130141953 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs192970994 | chr8:130141958-130141959 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs375279412 | chr8:130142050-130142051 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs75374603 | chr8:130142056-130142057 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs372182691 | chr8:130142085-130142086 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs75693751 | chr8:130142099-130142100 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs572362276 | chr8:130142105-130142106 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs570663469 | chr8:130142106-130142107 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs76035150 | chr8:130142126-130142127 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs576174497 | chr8:130142142-130142143 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs535411584 | chr8:130142170-130142171 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs571242901 | chr8:130142212-130142213 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs553813620 | chr8:130142232-130142233 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs574368130 | chr8:130142248-130142249 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs533865431 | chr8:130142250-130142251 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs368966001 | chr8:130142273-130142274 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:151)
| 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 |
| 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 |
| Acute myeloid leukemia | 20729466 | 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 |
| 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 |
| 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 |
| 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 |
| Malignant melanoma | 17260012 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Acute myeloid leukemia | 17268525 | CNVD |
| Acute myeloid leukemia | 18379011 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Sezary syndrome | 18413736 | CNVD |
| Breast cancer | 22048815 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Lung adenocarcinoma | 21148746 | CNVD |
| Lung cancer | 21911935 | CNVD |
| Breast cancer | 20459607 | CNVD |
| Medulloblastoma | 19270706 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| Colorectal cancer | 19455253 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Colorectal cancer | 22860045 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Lung cancer | 17925434 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Cancer | 17160897 | CNVD |
| Breast cancer | 16497871 | CNVD |
| Colorectal cancer | 16882699 | CNVD |
| Cystic fibrosis | 19273617 | CNVD |
| Chronic stroke | 19622162 | CNVD |
| Chordoma | 18071362 | CNVD |
| Breast cancer | 17850661 | CNVD |
| head and neck squamous cell carcinoma | 16740747 | CNVD |
| Gastric cancer | 22539939 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Breast cancer | 16620391 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21611746 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:130126400-130160600 | Weak transcription | Fetal Thymus | thymus |
| 2 | chr8:130138800-130142600 | Strong transcription | Dnd41 | blood |
| 3 | chr8:130142600-130143000 | Genic enhancers | Dnd41 | blood |
| 4 | chr8:130143000-130146000 | Strong transcription | Dnd41 | blood |
