Variant report
| Variant | esv3393987 |
|---|---|
| Chromosome Location | chr8:124610471-124612369 |
| 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 | chr8:124608823..124611776-chr8:124612994..124616282,3 | MCF-7 | breast: | |
| 2 | chr8:124607569..124610027-chr8:124612022..124613929,3 | MCF-7 | breast: | |
| 3 | chr8:124599268..124602405-chr8:124609262..124611573,3 | MCF-7 | breast: | |
| 4 | chr8:124611410..124613256-chr8:124617374..124619157,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000251840 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs535176459 | chr8:124610506-124610507 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs555213045 | chr8:124610507-124610508 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs6470158 | chr8:124610521-124610522 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs6470159 | chr8:124610526-124610527 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs6470160 | chr8:124610561-124610562 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs372762258 | chr8:124610579-124610580 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs187883484 | chr8:124610650-124610651 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs540787864 | chr8:124610653-124610654 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs560670357 | chr8:124610654-124610655 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs574327768 | chr8:124610658-124610659 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs193017588 | chr8:124610681-124610682 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs528536338 | chr8:124610688-124610689 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs562873635 | chr8:124610720-124610721 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs531707570 | chr8:124610759-124610760 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs7830837 | chr8:124610841-124610842 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs551501019 | chr8:124610846-124610847 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs564367302 | chr8:124610910-124610911 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs28825116 | chr8:124611004-124611005 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs546539506 | chr8:124611005-124611006 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs111367289 | chr8:124611025-124611026 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs535301131 | chr8:124611059-124611060 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs549042681 | chr8:124611072-124611073 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs568882076 | chr8:124611114-124611115 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs537813055 | chr8:124611132-124611133 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs189875612 | chr8:124611216-124611217 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs376667355 | chr8:124611235-124611236 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs193065473 | chr8:124611243-124611244 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs371559067 | chr8:124611251-124611252 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs374135631 | chr8:124611257-124611258 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 30 | rs184656287 | chr8:124611258-124611259 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs368500085 | chr8:124611260-124611261 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs9693838 | chr8:124611267-124611268 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs533783752 | chr8:124611270-124611271 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs369653538 | chr8:124611274-124611275 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs373600387 | chr8:124611275-124611276 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 36 | rs376589445 | chr8:124611276-124611277 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 37 | rs370632362 | chr8:124611282-124611283 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 38 | rs373418638 | chr8:124611283-124611284 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 39 | rs71310701 | chr8:124611289-124611290 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs76314574 | chr8:124611290-124611291 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 41 | rs372526592 | chr8:124611291-124611292 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 42 | rs377408195 | chr8:124611301-124611302 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 43 | rs74208581 | chr8:124611302-124611303 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 44 | rs375255061 | chr8:124611307-124611308 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 45 | rs368079378 | chr8:124611314-124611315 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 46 | rs371575842 | chr8:124611315-124611316 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 47 | rs557476609 | chr8:124611331-124611332 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 48 | rs114880386 | chr8:124611365-124611366 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 49 | rs78379790 | chr8:124611392-124611393 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 50 | rs534492793 | chr8:124611444-124611445 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:150)
| 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 |
| Acute myeloid leukemia | 20729466 | 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 |
| 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 |
| Carcinoma ex pleomorphic adenoma | 18828159 | 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 |
| Congenital diaphragmatic hernia | 21085971 | 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 |
| Breast cancer | 20932292 | CNVD |
| Gastric cancer | 22539939 | CNVD |
| Breast cancer | 22056952 | CNVD |
| Langer-Giedion syndrome | 16773131 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Mental retardation | 16773131 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Langer-Giedion syndrome | 22470819 | CNVD |
| Cornelia de Lange syndrome | 24599119 | 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 |
| Multiple myeloma | 17550852 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Acute myeloid leukemia | 17268525 | CNVD |
| Acute myeloid leukemia | 18379011 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Oral squamous cell carcinoma | 21853135 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Cancer | 20164919 | CNVD |
| Lung adenocarcinoma | 21935476 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| T-cell lymphomas | 22341440 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:124609200-124615000 | Weak transcription | Fetal Intestine Small | intestine |
| 2 | chr8:124609800-124620800 | Weak transcription | Psoas Muscle | Psoas |
| 3 | chr8:124610400-124611400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 4 | chr8:124610400-124618600 | Weak transcription | HMEC | breast |
| 5 | chr8:124610400-124620200 | Weak transcription | Pancreas | Pancrea |
| 6 | chr8:124610400-124628000 | Weak transcription | Aorta | Aorta |
| 7 | chr8:124610400-124630000 | Weak transcription | Right Atrium | heart |
| 8 | chr8:124611400-124615200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
