Variant report
Variant | nsv983711 |
---|---|
Chromosome Location | chr13:54164648-54174593 |
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 | rs553187648 | chr13:54164681-54164682 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs572981456 | chr13:54164717-54164718 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs541876170 | chr13:54164718-54164719 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs75535135 | chr13:54164734-54164735 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs373036208 | chr13:54164749-54164750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs118052411 | chr13:54164808-54164809 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs543801680 | chr13:54164840-54164841 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs144242587 | chr13:54164844-54164845 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs59051644 | chr13:54164846-54164847 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs7339180 | chr13:54164851-54164852 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs9591523 | chr13:54164874-54164875 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs190682884 | chr13:54164905-54164906 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs142185279 | chr13:54164977-54164978 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs77962334 | chr13:54165075-54165076 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs17069550 | chr13:54165145-54165146 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs569252988 | chr13:54165174-54165175 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs34613963 | chr13:54165225-54165226 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs9591524 | chr13:54165235-54165236 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs551790068 | chr13:54165252-54165253 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs571703068 | chr13:54165254-54165255 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs116760328 | chr13:54165262-54165263 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs55670239 | chr13:54165284-54165285 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs150872994 | chr13:54165285-54165286 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs535294622 | chr13:54165287-54165288 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs555583310 | chr13:54165301-54165302 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs575242509 | chr13:54165302-54165303 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs138500255 | chr13:54165313-54165314 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs559507816 | chr13:54165376-54165377 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs557311705 | chr13:54165377-54165378 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs181933159 | chr13:54165410-54165411 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs183799509 | chr13:54165441-54165442 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs367631625 | chr13:54165442-54165443 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs55909633 | chr13:54165476-54165477 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs529439098 | chr13:54165540-54165541 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs9563162 | chr13:54165555-54165556 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs542846924 | chr13:54165561-54165562 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs377522366 | chr13:54165596-54165597 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs563138582 | chr13:54165620-54165621 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs188109875 | chr13:54165645-54165646 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs541663597 | chr13:54165706-54165707 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
41 | rs149276137 | chr13:54165717-54165718 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
42 | rs17069551 | chr13:54165726-54165727 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs546828033 | chr13:54165743-54165744 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
44 | rs144476021 | chr13:54165761-54165762 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
45 | rs373143362 | chr13:54165781-54165782 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs148404152 | chr13:54165811-54165812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs555260057 | chr13:54165815-54165816 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs145027492 | chr13:54165829-54165830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs181301746 | chr13:54165881-54165882 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs35557774 | chr13:54165884-54165885 | 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 |
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 |
Acute lymphoblastic leukemia | 22237106 | 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 |
Melanoma | 18172304 | 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 |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Multiple myeloma | 17550852 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Breast cancer | 21858162 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Acute myeloid leukemia | 17237825 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16272173 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
Gastric cancer | 17908304 | CNVD |
Breast cancer | 18852474 | CNVD |
Myelofibrosis | 22110671 | CNVD |
craniofacial dysmorphism | 21918468 | CNVD |
Glioblastoma multiforme | 22286061 | 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 |
Urothelial carcinoma | 21177765 | CNVD |
Schizophrenia | 20967226 | CNVD |
Schizophrenia | 23813976 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:54163800-54166200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
2 | chr13:54164400-54165600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
3 | chr13:54164800-54165000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
4 | chr13:54164800-54166200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
5 | chr13:54165000-54166200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
6 | chr13:54165000-54166200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
7 | chr13:54165200-54165800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
8 | chr13:54165200-54166000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
9 | chr13:54165200-54166200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
10 | chr13:54165600-54165800 | Flanking Active TSS | HUES48 Cell Line | embryonic stem cell |
11 | chr13:54165600-54165800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
12 | chr13:54165600-54166000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
13 | chr13:54165800-54166000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
14 | chr13:54166000-54166200 | Flanking Active TSS | HUES48 Cell Line | embryonic stem cell |