Variant report
Variant | esv3422634 |
---|---|
Chromosome Location | chr13:47696701-47697899 |
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 | rs61952799 | chr13:47696737-47696738 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs543112328 | chr13:47696740-47696741 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs576980858 | chr13:47696752-47696753 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs372509540 | chr13:47696785-47696786 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs76290256 | chr13:47696799-47696800 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs113904031 | chr13:47696800-47696801 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs188277633 | chr13:47696805-47696806 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs182054572 | chr13:47696811-47696812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs61952800 | chr13:47696816-47696817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs138147515 | chr13:47696845-47696846 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs576196292 | chr13:47696869-47696870 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs574954805 | chr13:47696925-47696926 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs141770146 | chr13:47697001-47697002 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs2567673 | chr13:47697064-47697065 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs200694080 | chr13:47697080-47697081 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs540906555 | chr13:47697109-47697110 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs575552196 | chr13:47697137-47697138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs562212166 | chr13:47697163-47697164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs574307233 | chr13:47697193-47697194 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs578087480 | chr13:47697251-47697252 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs544768440 | chr13:47697338-47697339 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs375023653 | chr13:47697345-47697346 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs528916939 | chr13:47697348-47697349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs10528522 | chr13:47697364-47697365 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs562979977 | chr13:47697395-47697396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs78595933 | chr13:47697467-47697468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs56278671 | chr13:47697499-47697500 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs560513850 | chr13:47697515-47697516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs528408600 | chr13:47697534-47697535 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs138678259 | chr13:47697538-47697539 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs567970241 | chr13:47697589-47697590 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs149349089 | chr13:47697598-47697599 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs186302844 | chr13:47697605-47697606 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs8000812 | chr13:47697664-47697665 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs76149889 | chr13:47697715-47697716 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs557503017 | chr13:47697785-47697786 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs139957866 | chr13:47697810-47697811 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs147247725 | chr13:47697867-47697868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs4142747 | chr13:47697872-47697873 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | 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 |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | 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 | 17899364 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17133270 | CNVD |
Myoepithelioma | 18604193 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Trisomy | 24170809 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Alveolar rhabdomyosarcoma | 16790082 | CNVD |
Prostate cancer | 16573809 | CNVD |
Prostate cancer | 18632612 | CNVD |
Paraganglioma | 21461997 | CNVD |
Pheochromocytoma | 21461997 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Prostate cancer | 19242612 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Prostate cancer | 17245344 | CNVD |
Colorectal cancer | 21586687 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Developmental delay | 21147756 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Melanoma | 18172304 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Chronic lymphocytic leukemia | 21795749 | CNVD |
Chronic lymphocytic leukemia | 17805327 | CNVD |
Mental retardation | 17502991 | CNVD |
Retinoblastoma | 17502991 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Liposarcoma | 21253554 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Cervical cancer | 21062161 | CNVD |
microdeletion syndrome | 19284877 | CNVD |
Ovarian cancer | 22355333 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 17053054 | CNVD |
Multiple myeloma | 19135901 | CNVD |
Autism | 18414403 | CNVD |
Neurocytoma | 17123091 | CNVD |
Central neurocytomas | 17123091 | CNVD |
Prostate cancer | 16461572 | CNVD |
Merkel cell carcinoma | 19020549 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Breast cancer | 21509527 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Prostate cancer | 21088497 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Breast cancer | 22048815 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Glioblastoma multiforme | 21750150 | CNVD |
Chronic lymphocytic leukemia | 21049055 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Glioblastoma multiforme | 19435819 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Cancer | 20164920 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
Breast cancer | 21858162 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:47695600-47696800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
2 | chr13:47696000-47701200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
3 | chr13:47696800-47701200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |