Variant report
Variant | esv3345205 |
---|---|
Chromosome Location | chr8:113025276-113029374 |
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 | rs79193007 | chr8:113027657-113027658 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs536756930 | chr8:113027669-113027670 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs62521981 | chr8:113027704-113027705 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs566908019 | chr8:113027723-113027724 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs59556155 | chr8:113027789-113027790 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs559342408 | chr8:113027840-113027841 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs10808450 | chr8:113027843-113027844 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs544439381 | chr8:113027848-113027849 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs10955610 | chr8:113027918-113027919 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs537394644 | chr8:113027930-113027931 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs574423104 | chr8:113027947-113027948 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs539967011 | chr8:113027953-113027954 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs559701689 | chr8:113027995-113027996 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs532019144 | chr8:113028044-113028045 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs368318519 | chr8:113028062-113028063 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs113621844 | chr8:113028101-113028102 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs533629987 | chr8:113028134-113028135 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs376026084 | chr8:113028140-113028141 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs73331413 | chr8:113028149-113028150 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs143596962 | chr8:113028171-113028172 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs74308539 | chr8:113028296-113028297 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs73331414 | chr8:113028350-113028351 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs80070932 | chr8:113028376-113028377 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs181748639 | chr8:113028407-113028408 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs151235442 | chr8:113028424-113028425 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs186010808 | chr8:113028431-113028432 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs569415564 | chr8:113028438-113028439 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs538553885 | chr8:113028482-113028483 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs117813435 | chr8:113028545-113028546 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs575009545 | chr8:113028547-113028548 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs192072482 | chr8:113028581-113028582 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs117939198 | chr8:113028599-113028600 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs140894069 | chr8:113028608-113028609 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
34 | rs536999749 | chr8:113028647-113028648 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
35 | rs545349579 | chr8:113028671-113028672 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
36 | rs184114355 | chr8:113028685-113028686 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs531476637 | chr8:113028712-113028713 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
38 | rs187083809 | chr8:113028715-113028716 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs558532447 | chr8:113028751-113028752 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs191049938 | chr8:113028763-113028764 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
41 | rs527532684 | chr8:113028845-113028846 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
42 | rs547619356 | chr8:113028858-113028859 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs578161922 | chr8:113028908-113028909 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
44 | rs566930171 | chr8:113028962-113028963 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
45 | rs182077715 | chr8:113028963-113028964 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs149736144 | chr8:113028989-113028990 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
47 | rs569263660 | chr8:113028990-113028991 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs187174227 | chr8:113029022-113029023 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs555023415 | chr8:113029026-113029027 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs568547130 | chr8:113029027-113029028 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
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 |
Breast cancer | 17603634 | 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 |
Cancer | 20164919 | 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 |
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 |
Colorectal cancer | 16774939 | CNVD |
Autosomal-dominant progressive external ophthalmoplegia | 19664747 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Breast cancer | 21611746 | 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 |
Chronic myeloid leukemia | 21384125 | CNVD |
Breast cancer | 21364760 | CNVD |
Neuroticism | 17667963 | CNVD |
Papillary thyroid cancer | 17515504 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Schizophrenia | 20967226 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:113027600-113030600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr8:113028600-113029000 | Active TSS | Fetal Heart | heart |