Variant report
Variant | esv3511351 |
---|---|
Chromosome Location | chr8:131849620-131853818 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs146461380 | chr8:131849640-131849641 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs574617784 | chr8:131849652-131849653 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs16904371 | chr8:131849678-131849679 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs140767763 | chr8:131849710-131849711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs150094649 | chr8:131849760-131849761 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs549641180 | chr8:131849762-131849763 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs527573170 | chr8:131849784-131849785 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs552454766 | chr8:131849826-131849827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs138324694 | chr8:131849849-131849850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs185604433 | chr8:131849852-131849853 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs369627974 | chr8:131849876-131849877 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs373467645 | chr8:131849878-131849879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs569320770 | chr8:131849884-131849885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs536375425 | chr8:131849927-131849928 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs574670846 | chr8:131850011-131850012 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs548372673 | chr8:131850057-131850058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs563031065 | chr8:131850062-131850063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs566766389 | chr8:131850075-131850076 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs534185033 | chr8:131850099-131850100 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs149228829 | chr8:131850127-131850128 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs576726842 | chr8:131850149-131850150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs537829530 | chr8:131850168-131850169 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs143397181 | chr8:131850217-131850218 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs117666410 | chr8:131850239-131850240 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs139195931 | chr8:131850252-131850253 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs560347984 | chr8:131850285-131850286 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs572272448 | chr8:131850435-131850436 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs545751631 | chr8:131850439-131850440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs564422277 | chr8:131850453-131850454 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs190069065 | chr8:131850467-131850468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs58719224 | chr8:131850486-131850487 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs562592881 | chr8:131850710-131850711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs143234729 | chr8:131850727-131850728 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs371294910 | chr8:131850750-131850751 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs183048596 | chr8:131850761-131850762 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs57086962 | chr8:131850824-131850825 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs530728406 | chr8:131850845-131850846 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs62518065 | chr8:131850962-131850963 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs79260884 | chr8:131850969-131850970 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs188503348 | chr8:131851056-131851057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs538201098 | chr8:131851086-131851087 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs556114106 | chr8:131851090-131851091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs568070641 | chr8:131851151-131851152 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs60891573 | chr8:131851157-131851158 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs74654261 | chr8:131851163-131851164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs572237299 | chr8:131851197-131851198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs528267194 | chr8:131851225-131851226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs386730058 | chr8:131851268-131851269 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs74778657 | chr8:131851270-131851271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs138424034 | chr8:131851271-131851272 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
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 |
Esophageal squamous carcinoma | 18405350 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Sezary syndrome | 18413736 | 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 |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 21611746 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Gastric cancer | 16891809 | CNVD |
Colorectal cancer | 19455253 | CNVD |
Pregnancies with abnormal ultrasound findings | 21110858 | CNVD |
Breast cancer | 19181860 | CNVD |
Brain cancer | 19584924 | CNVD |
Medulloblastoma | 19584924 | CNVD |
Follicular lymphoma | 17699855 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Prostate cancer | 22341455 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:131842600-131858400 | Weak transcription | Brain Cingulate Gyrus | brain |
2 | chr8:131843800-131858200 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |