Variant report
Variant | nsv977173 |
---|---|
Chromosome Location | chr13:66604443-66609831 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- 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 | rs567059092 | chr13:66605800-66605801 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs189089431 | chr13:66605810-66605811 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs552518974 | chr13:66605851-66605852 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs569398153 | chr13:66605852-66605853 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs538033176 | chr13:66605902-66605903 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs369817295 | chr13:66605906-66605907 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs373926509 | chr13:66605907-66605908 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs140616456 | chr13:66605911-66605912 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs76582463 | chr13:66605912-66605913 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs112651479 | chr13:66605913-66605914 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs562557959 | chr13:66605916-66605917 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs71205569 | chr13:66606096-66606097 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs556686274 | chr13:66606099-66606100 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs371393966 | chr13:66606102-66606103 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs386363696 | chr13:66606103-66606104 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs567014039 | chr13:66606112-66606113 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs535855415 | chr13:66606147-66606148 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs181176479 | chr13:66606231-66606232 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs552889650 | chr13:66606252-66606253 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs573079807 | chr13:66606273-66606274 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs545256273 | chr13:66606276-66606277 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs183988122 | chr13:66606278-66606279 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs200261284 | chr13:66606292-66606293 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs558560139 | chr13:66606305-66606306 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs559963838 | chr13:66606308-66606309 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs533877861 | chr13:66606365-66606366 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs544414898 | chr13:66606383-66606384 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs561405063 | chr13:66606427-66606428 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs558648476 | chr13:66606443-66606444 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs187985859 | chr13:66606461-66606462 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs180965586 | chr13:66606480-66606481 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs560509821 | chr13:66606513-66606514 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs532709542 | chr13:66606535-66606536 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs552867175 | chr13:66606552-66606553 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs563038559 | chr13:66606657-66606658 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs34992811 | chr13:66606659-66606660 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs531828610 | chr13:66606679-66606680 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs548335424 | chr13:66606770-66606771 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs375437056 | chr13:66606772-66606773 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs567026371 | chr13:66606789-66606790 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs187069142 | chr13:66606838-66606839 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs546297283 | chr13:66606874-66606875 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs576866129 | chr13:66606947-66606948 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs145362466 | chr13:66606948-66606949 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs114881009 | chr13:66606961-66606962 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs80119714 | chr13:66606962-66606963 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs575598257 | chr13:66607014-66607015 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs562072308 | chr13:66607079-66607080 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs75602319 | chr13:66607130-66607131 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs544126257 | chr13:66607135-66607136 | Enhancers 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 |
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 |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Prostate cancer | 16461572 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
Intellectual disability | 21811512 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Melanoma | 20877625 | CNVD |
T-cell lymphomas | 22341440 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Bipolar disorder | 19114987 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:66605800-66608600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
2 | chr13:66605800-66608600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
3 | chr13:66605800-66608600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
4 | chr13:66606200-66606600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
5 | chr13:66606400-66607600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
6 | chr13:66606600-66607800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
7 | chr13:66607800-66608000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
8 | chr13:66607800-66608400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
9 | chr13:66607800-66608600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
10 | chr13:66608000-66608400 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
11 | chr13:66608400-66610400 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
12 | chr13:66608600-66610000 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
13 | chr13:66608600-66610200 | Weak transcription | HUES64 Cell Line | embryonic stem cell |