Variant report
Variant | nsv516139 |
---|---|
Chromosome Location | chr13:61738791-61744695 |
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 | rs3102209 | chr13:61743289-61743290 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs539693429 | chr13:61743294-61743295 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs558938295 | chr13:61743295-61743296 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs114448795 | chr13:61743310-61743311 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs542350256 | chr13:61743322-61743323 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs551661018 | chr13:61743369-61743370 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs115692534 | chr13:61743400-61743401 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs188555141 | chr13:61743425-61743426 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs192860358 | chr13:61743437-61743438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs34852906 | chr13:61743443-61743444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs74080327 | chr13:61743450-61743451 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs556346615 | chr13:61743455-61743456 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs185428297 | chr13:61743467-61743468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs553471211 | chr13:61743482-61743483 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs556084034 | chr13:61743507-61743508 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs9570488 | chr13:61743538-61743539 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs545633161 | chr13:61743544-61743545 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs1483702 | chr13:61743571-61743572 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs558145981 | chr13:61743619-61743620 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs558094574 | chr13:61743639-61743640 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs578156904 | chr13:61743641-61743642 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs370797022 | chr13:61743723-61743724 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs73550737 | chr13:61743740-61743741 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs78518624 | chr13:61743765-61743766 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs534011651 | chr13:61743768-61743769 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs545076348 | chr13:61743833-61743834 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs189309708 | chr13:61743887-61743888 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs540748193 | chr13:61743908-61743909 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs192505597 | chr13:61743995-61743996 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs532774194 | chr13:61744005-61744006 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs3054552 | chr13:61744036-61744037 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs564780128 | chr13:61744037-61744038 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs183482633 | chr13:61744158-61744159 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs1351763 | chr13:61744174-61744175 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs576180752 | chr13:61744192-61744193 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs7358857 | chr13:61744208-61744209 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs7358858 | chr13:61744214-61744215 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs7358859 | chr13:61744223-61744224 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs7358860 | chr13:61744229-61744230 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs549398455 | chr13:61744242-61744243 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs370251358 | chr13:61744276-61744277 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs567866930 | chr13:61744322-61744323 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs368211958 | chr13:61744349-61744350 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs535204581 | chr13:61744365-61744366 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs142098678 | chr13:61744366-61744367 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs571728963 | chr13:61744370-61744371 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs539125642 | chr13:61744376-61744377 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs145740692 | chr13:61744429-61744430 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs575529120 | chr13:61744447-61744448 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs542950494 | chr13:61744501-61744502 | Weak transcription Enhancers | 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 |
small cell lung cancer | 20016488 | 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 |
Lung cancer | 18438408 | 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 |
Esophageal squamous carcinoma | 20200074 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Anaplastic thyroid cancer | 18753363 | CNVD |
Bipolar disorder | 19214233 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:61743200-61743400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
2 | chr13:61743400-61749800 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
3 | chr13:61743600-61744800 | Enhancers | Brain Germinal Matrix | brain |
4 | chr13:61744400-61745400 | Enhancers | Brain Substantia Nigra | brain |
5 | chr13:61744400-61746000 | Enhancers | Cortex derived primary cultured neurospheres | brain |
6 | chr13:61744600-61745400 | Enhancers | Brain Anterior Caudate | brain |
7 | chr13:61744600-61745400 | Enhancers | Brain Hippocampus Middle | brain |