Variant report
Variant | esv3322320 |
---|---|
Chromosome Location | chr13:64019051-64020449 |
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 | rs534375013 | chr13:64019051-64019052 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs553055319 | chr13:64019075-64019076 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs377713377 | chr13:64019149-64019150 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs71439992 | chr13:64019188-64019189 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs539681321 | chr13:64019229-64019230 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs558009518 | chr13:64019250-64019251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs576378322 | chr13:64019296-64019297 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs12430028 | chr13:64019298-64019299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs186682630 | chr13:64019300-64019301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs529940137 | chr13:64019316-64019317 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs375238491 | chr13:64019337-64019338 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs12869899 | chr13:64019375-64019376 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs71102446 | chr13:64019382-64019383 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs367970255 | chr13:64019383-64019384 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs554808390 | chr13:64019393-64019394 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs368055538 | chr13:64019397-64019398 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs370375426 | chr13:64019401-64019402 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs374340522 | chr13:64019423-64019424 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs71102447 | chr13:64019437-64019438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs367833863 | chr13:64019445-64019446 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs371593550 | chr13:64019467-64019468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs71102448 | chr13:64019468-64019469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs376796575 | chr13:64019495-64019496 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs569871955 | chr13:64019499-64019500 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs573998933 | chr13:64019502-64019503 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs541140225 | chr13:64019503-64019504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs376260571 | chr13:64019509-64019510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs375430047 | chr13:64019510-64019511 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs376515881 | chr13:64019535-64019536 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs559915994 | chr13:64019568-64019569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs563571298 | chr13:64019569-64019570 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs71102449 | chr13:64019589-64019590 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs370095991 | chr13:64019590-64019591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs140064652 | chr13:64019591-64019592 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs201220070 | chr13:64019606-64019607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs191143251 | chr13:64019643-64019644 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs202123130 | chr13:64019668-64019669 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs530669586 | chr13:64019670-64019671 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs141351343 | chr13:64019681-64019682 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs567115994 | chr13:64019709-64019710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs71439993 | chr13:64019720-64019721 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs546265668 | chr13:64019759-64019760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs111934910 | chr13:64019788-64019789 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs183356264 | chr13:64019826-64019827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs557972859 | chr13:64019867-64019868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs9570878 | chr13:64019909-64019910 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs117204974 | chr13:64020080-64020081 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs556048935 | chr13:64020081-64020082 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs9570879 | chr13:64020097-64020098 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
50 | rs540068470 | chr13:64020120-64020121 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Prostate cancer | 16705090 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Autism | 22495311 | CNVD |
Chordoma | 21602918 | CNVD |
Bladder cancer | 21949216 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Cancer | 21637783 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 21518781 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Intracranial aneurysm | 19064780 | CNVD |
Breast cancer | 19287154 | CNVD |
Acute myeloid leukemia | 18379011 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Ependymoma | 16718352 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Colorectal cancer | 16272173 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Breast cancer | 17133270 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Prostate cancer | 16573809 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Paraganglioma | 21461997 | CNVD |
Pheochromocytoma | 21461997 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Prostate cancer | 17245344 | CNVD |
Prostate cancer | 18632612 | CNVD |
Colorectal cancer | 21586687 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Developmental delay | 21147756 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Merkel cell carcinoma | 19020549 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Breast cancer | 21858162 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Gastric cancer | 17908304 | CNVD |
Glioblastoma multiforme | 21750150 | CNVD |
Breast cancer | 17603634 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 17393978 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Liposarcoma | 21253554 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
abnormal development | 18461090 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Myelofibrosis | 22110671 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:64010800-64024000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr13:64015600-64024000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
3 | chr13:64016000-64019200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
4 | chr13:64019200-64023800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr13:64020400-64021000 | Active TSS | Pancreatic Islets | Pancreatic Islet |