Variant report
Variant | esv3361193 |
---|---|
Chromosome Location | chr6:110580459-110584157 |
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 | rs368114409 | chr6:110580465-110580466 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs531480649 | chr6:110580470-110580471 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs113742160 | chr6:110580531-110580532 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs530050325 | chr6:110580543-110580544 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs533905335 | chr6:110580568-110580569 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs553905423 | chr6:110580569-110580570 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs567113400 | chr6:110580618-110580619 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs539228790 | chr6:110580640-110580641 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs558835136 | chr6:110580664-110580665 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs569409272 | chr6:110580665-110580666 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs546648656 | chr6:110580673-110580674 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs557438172 | chr6:110580690-110580691 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs538119451 | chr6:110580703-110580704 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs554576663 | chr6:110580708-110580709 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs566785746 | chr6:110580735-110580736 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs375914403 | chr6:110580766-110580767 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs574470000 | chr6:110580794-110580795 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs144484760 | chr6:110580804-110580805 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs538540316 | chr6:110580827-110580828 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs146628318 | chr6:110580833-110580834 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs190286018 | chr6:110580856-110580857 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs546001706 | chr6:110580857-110580858 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs182541532 | chr6:110580858-110580859 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs149223021 | chr6:110580865-110580866 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs7774900 | chr6:110580916-110580917 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs11757347 | chr6:110580948-110580949 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs561715062 | chr6:110581024-110581025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs527272064 | chr6:110581128-110581129 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs569069994 | chr6:110581135-110581136 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs34565055 | chr6:110581148-110581149 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs377556386 | chr6:110581169-110581170 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs186864277 | chr6:110581177-110581178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs192160727 | chr6:110581235-110581236 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs111808248 | chr6:110581253-110581254 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs140774366 | chr6:110581280-110581281 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs538557979 | chr6:110581311-110581312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs554838130 | chr6:110581330-110581331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs200429598 | chr6:110581334-110581335 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs574533446 | chr6:110581346-110581347 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs150124087 | chr6:110581369-110581370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs553722579 | chr6:110581396-110581397 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs138810714 | chr6:110581420-110581421 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs545966251 | chr6:110581432-110581433 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs562733182 | chr6:110581433-110581434 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs576155263 | chr6:110581455-110581456 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs185059549 | chr6:110581498-110581499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs561974387 | chr6:110581535-110581536 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs142817989 | chr6:110581544-110581545 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs547435158 | chr6:110581602-110581603 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs146989153 | chr6:110581707-110581708 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Biliary cancer | 19435499 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Autism | 22495311 | CNVD |
Gastric cancer | 17908304 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 16608533 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Prostate cancer | 16705090 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Ependymoma | 16718352 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 16272173 | CNVD |
Prostate cancer | 18632612 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Wilms tumour | 21544195 | CNVD |
Leukemia | 18688285 | CNVD |
Prostate cancer | 19242612 | CNVD |
Glioma | 21046410 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Zellweger syndrome | 21572526 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Malignant melanoma | 18718029 | CNVD |
Lung adenocarcinoma | 21935476 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21858162 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Chondromyxoid Fibroma | 20696777 | CNVD |
Cancer | 21183584 | CNVD |
Developmental delay | 19490664 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Prostate cancer | 16573809 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 21785460 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Prostate cancer | 16461572 | CNVD |
Neurocytoma | 17123091 | CNVD |
Cancer | 20164920 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21364760 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Chronic lymphocytic leukemia | 17805327 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Autism | 17483303 | CNVD |
Chordoma | 21602918 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
abnormal development | 18461090 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Systemic lupus erythematosus | 19220326 | CNVD |
Cancer | 17160897 | CNVD |
Autism | 19546859 | CNVD |
Schizophrenia | 19546859 | CNVD |
Tourette syndrome | 19546859 | CNVD |
Acute lymphoblastic leukemia | 17229543 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17133270 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Mental retardation | 17621639 | CNVD |
Intellectual disability | 22102821 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:110550600-110608200 | Weak transcription | Fetal Kidney | kidney |
2 | chr6:110567400-110604600 | Weak transcription | Ovary | ovary |
3 | chr6:110567600-110604600 | Weak transcription | Duodenum Smooth Muscle | Duodenum |
4 | chr6:110573600-110604600 | Weak transcription | Aorta | Aorta |
5 | chr6:110577400-110591600 | Weak transcription | Colon Smooth Muscle | Colon |
6 | chr6:110579400-110589000 | Weak transcription | Stomach Smooth Muscle | stomach |
7 | chr6:110580200-110580800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
8 | chr6:110580200-110581000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
9 | chr6:110581200-110581600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |