Variant report
Variant | esv993134 |
---|---|
Chromosome Location | chr13:49535055-49536829 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-FNDC3A-2 | chr13:49536817-49537104 | NONHSAT033726 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000102531 | chromatin interactions |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs78124498 | chr13:49535091-49535092 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs535889541 | chr13:49535170-49535171 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs556150980 | chr13:49535171-49535172 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs74587028 | chr13:49535323-49535324 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs563270022 | chr13:49535364-49535365 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs191570784 | chr13:49535386-49535387 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs149156009 | chr13:49535430-49535431 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs576311013 | chr13:49535494-49535495 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs564103751 | chr13:49535559-49535560 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs528025682 | chr13:49535583-49535584 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs35178166 | chr13:49535608-49535609 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs398022700 | chr13:49535616-49535617 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs200205446 | chr13:49535632-49535633 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs143360536 | chr13:49535678-49535679 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs561926778 | chr13:49535709-49535710 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs182971179 | chr13:49535779-49535780 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs374287775 | chr13:49535803-49535804 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs550772661 | chr13:49535883-49535884 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs9645999 | chr13:49535913-49535914 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs186285051 | chr13:49535950-49535951 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs537541450 | chr13:49536000-49536001 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs190801901 | chr13:49536006-49536007 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs558721956 | chr13:49536056-49536057 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs182114995 | chr13:49536074-49536075 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs117474718 | chr13:49536089-49536090 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs553274234 | chr13:49536197-49536198 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs574772912 | chr13:49536211-49536212 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs187947707 | chr13:49536257-49536258 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs192417195 | chr13:49536262-49536263 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs183122096 | chr13:49536270-49536271 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs545885689 | chr13:49536299-49536300 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs557525525 | chr13:49536309-49536310 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs572889283 | chr13:49536326-49536327 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs540204443 | chr13:49536328-49536329 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs191768408 | chr13:49536348-49536349 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs11448293 | chr13:49536522-49536523 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs398022701 | chr13:49536527-49536528 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs201011375 | chr13:49536528-49536529 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs114621587 | chr13:49536533-49536534 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs202141850 | chr13:49536621-49536622 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs114986919 | chr13:49536630-49536631 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs148345307 | chr13:49536679-49536680 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs552656729 | chr13:49536704-49536705 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs9568139 | chr13:49536705-49536706 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
45 | rs188312057 | chr13:49536708-49536709 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs546576466 | chr13:49536723-49536724 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs192992834 | chr13:49536725-49536726 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs184743564 | chr13:49536749-49536750 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs79361640 | chr13:49536756-49536757 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs189663478 | chr13:49536776-49536777 | Enhancers | Chromatin interactive region | 1 gene(s) | 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 | 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 |
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 |
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 |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Glioblastoma multiforme | 19435819 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20467480 | 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 |
Myelofibrosis | 22110671 | CNVD |
Hereditary prostate cancer | 22028916 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Chronic lymphocytic leukemia | 21049055 | CNVD |
Prostate cancer | 17217626 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16272173 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:49532800-49535200 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
2 | chr13:49535200-49536200 | Enhancers | Monocytes-CD14+_RO01746 | blood |
3 | chr13:49535400-49536000 | Enhancers | Primary monocytes fromperipheralblood | blood |
4 | chr13:49536400-49536800 | Enhancers | K562 | blood |