Variant report
Variant | esv3333317 |
---|---|
Chromosome Location | chr15:56070204-56070544 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- 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 | rs543213508 | chr15:56070236-56070237 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs145372417 | chr15:56070238-56070239 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs71719886 | chr15:56070302-56070303 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs375149465 | chr15:56070312-56070313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs576501617 | chr15:56070325-56070326 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs28445574 | chr15:56070331-56070332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs28690014 | chr15:56070338-56070339 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs59540808 | chr15:56070339-56070340 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs377218342 | chr15:56070340-56070341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs58339459 | chr15:56070342-56070343 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs370233542 | chr15:56070361-56070362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs71110331 | chr15:56070363-56070364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs200053966 | chr15:56070364-56070365 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs201020941 | chr15:56070365-56070366 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs202236626 | chr15:56070367-56070368 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs142010947 | chr15:56070393-56070394 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs373324843 | chr15:56070394-56070395 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs57870022 | chr15:56070402-56070403 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs75545503 | chr15:56070407-56070408 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs28496269 | chr15:56070425-56070426 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs138901917 | chr15:56070427-56070428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs376624210 | chr15:56070428-56070429 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs60001067 | chr15:56070429-56070430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs72732213 | chr15:56070430-56070431 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs368881475 | chr15:56070444-56070445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs564972682 | chr15:56070453-56070454 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs9745008 | chr15:56070522-56070523 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs7403176 | chr15:56070528-56070529 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Ewing''s sarcoma | 21437220 | CNVD |
Schizophrenia | 19415332 | CNVD |
Breast cancer | 22522925 | CNVD |
Autism | 22495311 | CNVD |
Wilms tumour | 21544195 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
cataract | 16735990 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Medulloblastoma | 21979893 | CNVD |
spastic paraplegia with thinning of corpus callosum | 19105190 | CNVD |
Schizophrenia | 21324950 | CNVD |
Astrocytoma | 17387387 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Disease | 21824424 | CNVD |
Melanoma | 18172304 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Gastric cancer | 17167181 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Intellectual disability | 22102821 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Prostate cancer | 16573809 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Lung cancer | 18438408 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Prostate cancer | 18632612 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Cancer | 21129771 | CNVD |
Breast cancer | 16272173 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Abnormal phenotypes | 18644119 | CNVD |
Cancer | 16751803 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Acute monocytic leukemia | 16498392 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Breast cancer | 17133270 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Congenital diaphragmatic hernia | 21341218 | CNVD |
Holoprosencephaly | 21359414 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr15:56057400-56078800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr15:56067200-56078400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
3 | chr15:56069800-56072800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |