Variant report
Variant | esv11366 |
---|---|
Chromosome Location | chr15:54890805-54893062 |
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 | rs58408360 | chr15:54890806-54890807 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs74853879 | chr15:54890843-54890844 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs372826807 | chr15:54890908-54890909 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs577386909 | chr15:54890928-54890929 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs575580116 | chr15:54890984-54890985 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs187349129 | chr15:54891017-54891018 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs559621370 | chr15:54891036-54891037 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs192331980 | chr15:54891072-54891073 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs541859277 | chr15:54891124-54891125 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs369805856 | chr15:54891156-54891157 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs530937029 | chr15:54891174-54891175 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs546163652 | chr15:54891192-54891193 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs551074987 | chr15:54891213-54891214 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs569715581 | chr15:54891308-54891309 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs150969151 | chr15:54891333-54891334 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs370254596 | chr15:54891338-54891339 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs182624631 | chr15:54891412-54891413 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs552498268 | chr15:54891435-54891436 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs114850631 | chr15:54891474-54891475 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs140261297 | chr15:54891475-54891476 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs554635477 | chr15:54891500-54891501 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs568072138 | chr15:54891522-54891523 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs536715328 | chr15:54891573-54891574 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs10152979 | chr15:54891667-54891668 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs563315112 | chr15:54891670-54891671 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs546033084 | chr15:54891682-54891683 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs2947000 | chr15:54891699-54891700 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs77849743 | chr15:54891715-54891716 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs10152907 | chr15:54891716-54891717 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs372613938 | chr15:54891724-54891725 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs575609604 | chr15:54891737-54891738 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs2414327 | chr15:54891816-54891817 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
33 | rs187287019 | chr15:54891847-54891848 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs532198814 | chr15:54891968-54891969 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs9920919 | chr15:54892000-54892001 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
36 | rs551345943 | chr15:54892019-54892020 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs373472827 | chr15:54892065-54892066 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs559666230 | chr15:54892074-54892075 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs571100875 | chr15:54892147-54892148 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs376644213 | chr15:54892168-54892169 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs145233978 | chr15:54892173-54892174 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs191860844 | chr15:54892176-54892177 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs567924989 | chr15:54892188-54892189 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs541451315 | chr15:54892199-54892200 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs201991517 | chr15:54892200-54892201 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs534998411 | chr15:54892230-54892231 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs184178247 | chr15:54892362-54892363 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs550399869 | chr15:54892392-54892393 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs1818704 | chr15:54892404-54892405 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
50 | rs539625798 | chr15:54892409-54892410 | Strong transcription | n/a | n/a | Overlapped CNVs | 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 |
Breast cancer | 22032731 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Myeloproliferative neoplasm | 20015882 | 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 |
Myelofibrosis | 22110671 | CNVD |
Acute monocytic leukemia | 16498392 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Breast cancer | 17133270 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr15:54887600-54892800 | Strong transcription | Fetal Heart | heart |
2 | chr15:54892800-54894400 | Weak transcription | Fetal Heart | heart |