Variant report
Variant | esv3499332 |
---|---|
Chromosome Location | chr8:87099638-87100848 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:76)
- 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 |
Variant related genes | Relation type |
---|---|
PSKH2 | TF binding region |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs550264768 | chr8:87099649-87099650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs1872135 | chr8:87099703-87099704 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs527511677 | chr8:87099756-87099757 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs529335669 | chr8:87099771-87099772 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs549289140 | chr8:87099857-87099858 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs182935132 | chr8:87099870-87099871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs74915069 | chr8:87099876-87099877 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs549183120 | chr8:87099880-87099881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs562083464 | chr8:87099989-87099990 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs534917372 | chr8:87100006-87100007 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs557955025 | chr8:87100007-87100008 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs571433265 | chr8:87100026-87100027 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs74741115 | chr8:87100029-87100030 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs115551687 | chr8:87100041-87100042 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs550750500 | chr8:87100060-87100061 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs115800548 | chr8:87100077-87100078 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs569242987 | chr8:87100083-87100084 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs117320407 | chr8:87100123-87100124 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs572359194 | chr8:87100150-87100151 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs145479058 | chr8:87100160-87100161 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs112414087 | chr8:87100166-87100167 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs533609658 | chr8:87100176-87100177 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs543531007 | chr8:87100212-87100213 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs187272644 | chr8:87100314-87100315 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs201415409 | chr8:87100321-87100322 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs142232892 | chr8:87100322-87100323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs33939655 | chr8:87100323-87100324 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs555470287 | chr8:87100356-87100357 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs143623123 | chr8:87100360-87100361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs529416232 | chr8:87100361-87100362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs10107781 | chr8:87100367-87100368 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs559805578 | chr8:87100380-87100381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs193063111 | chr8:87100440-87100441 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs528358228 | chr8:87100452-87100453 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs551686176 | chr8:87100467-87100468 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs555096614 | chr8:87100475-87100476 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs377633735 | chr8:87100540-87100541 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs537301624 | chr8:87100541-87100542 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs140918057 | chr8:87100556-87100557 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs183194133 | chr8:87100601-87100602 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs555917314 | chr8:87100631-87100632 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs369897286 | chr8:87100663-87100664 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs552524048 | chr8:87100691-87100692 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs188254307 | chr8:87100751-87100752 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs534971776 | chr8:87100752-87100753 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs558458356 | chr8:87100782-87100783 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs578103547 | chr8:87100797-87100798 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs149774978 | chr8:87100818-87100819 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Melanoma | 18172304 | CNVD |
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 |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Testicular cancer | 18059402 | CNVD |
Acute lymphoblastic leukemia | 22237106 | 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 |
Cancer | 20164919 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Multiple myeloma | 16461302 | 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 | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | 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 |
Glioblastoma multiforme | 18628472 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Cancer | 21949371 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Acute myeloid leukemia | 21358987 | 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 |
Acute lymphoblastic leukemia | 18458336 | CNVD |
small cell lung cancer | 20016488 | 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 |
Bladder cancer | 19088036 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17899364 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Epilepsy | 20502679 | CNVD |
Autism | 20841430 | CNVD |
Breast cancer | 21364760 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Breast cancer | 20409316 | CNVD |
Acute myeloid leukemia | 19651601 | CNVD |
head and neck squamous cell carcinoma | 19451471 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:87082400-87126200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr8:87098800-87100600 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
3 | chr8:87100000-87100200 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
4 | chr8:87100200-87102200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
5 | chr8:87100400-87100600 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
6 | chr8:87100400-87101000 | Enhancers | Fetal Lung | lung |
7 | chr8:87100600-87100800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
8 | chr8:87100600-87101000 | Enhancers | Adipose Nuclei | Adipose |
9 | chr8:87100600-87101000 | Enhancers | Brain Anterior Caudate | brain |
10 | chr8:87100600-87101000 | Enhancers | Brain Inferior Temporal Lobe | brain |
11 | chr8:87100600-87101000 | Enhancers | Stomach Mucosa | stomach |
12 | chr8:87100600-87101000 | Enhancers | Monocytes-CD14+_RO01746 | blood |
13 | chr8:87100600-87105800 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
14 | chr8:87100800-87101000 | Enhancers | Primary monocytes fromperipheralblood | blood |
15 | chr8:87100800-87101200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |