Variant report
Variant | esv1007529 |
---|---|
Chromosome Location | chr20:16238479-16239796 |
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 | rs377380628 | chr20:16238498-16238499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs370771200 | chr20:16238500-16238501 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs200389986 | chr20:16238504-16238505 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs111453446 | chr20:16238515-16238516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs200770801 | chr20:16238520-16238521 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs373635571 | chr20:16238524-16238525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs144290571 | chr20:16238531-16238532 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs181924021 | chr20:16238532-16238533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs112937423 | chr20:16238541-16238542 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs561375105 | chr20:16238554-16238555 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs528535749 | chr20:16238561-16238562 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs201030351 | chr20:16238565-16238566 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs377135718 | chr20:16238590-16238591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs568083078 | chr20:16238596-16238597 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs540722834 | chr20:16238608-16238609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs537100653 | chr20:16238626-16238627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs189175263 | chr20:16238634-16238635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs62643376 | chr20:16238642-16238643 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs560222518 | chr20:16238648-16238649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs528663754 | chr20:16238685-16238686 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs115469748 | chr20:16238687-16238688 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs551190947 | chr20:16238689-16238690 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs569612935 | chr20:16238700-16238701 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs111220201 | chr20:16238739-16238740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs62648959 | chr20:16238749-16238750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs111165344 | chr20:16238753-16238754 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs111165345 | chr20:16238763-16238764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs567258162 | chr20:16238802-16238803 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs202142070 | chr20:16238812-16238813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs371022258 | chr20:16238816-16238817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs111064840 | chr20:16238855-16238856 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs111067031 | chr20:16238864-16238865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs111212257 | chr20:16238878-16238879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs111212258 | chr20:16238894-16238895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs111165346 | chr20:16238897-16238898 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs201941120 | chr20:16238904-16238905 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs377220134 | chr20:16238932-16238933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs201291798 | chr20:16238936-16238937 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs67114134 | chr20:16238958-16238959 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs539211461 | chr20:16238995-16238996 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs560676551 | chr20:16239006-16239007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs111165347 | chr20:16239012-16239013 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs557632384 | chr20:16239021-16239022 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs111165348 | chr20:16239022-16239023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs200700357 | chr20:16239025-16239026 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs377174733 | chr20:16239027-16239028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs201565066 | chr20:16239045-16239046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs372558730 | chr20:16239048-16239049 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs111165349 | chr20:16239050-16239051 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs375622759 | chr20:16239054-16239055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 16397240 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Wilms tumour | 21544195 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 16272173 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Oral cancer | 19627613 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Central neurocytomas | 17123091 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Colorectal cancer | 21645411 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Autism | 22495311 | CNVD |
Glaucoma | 21310917 | CNVD |
Alagille syndrome | 22470819 | CNVD |
Lung cancer | 16773561 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Alagille syndrome | 17576883 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ewing''s sarcoma | 18628472 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Kabuki syndrome | 21720541 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Neurocytoma | 17123091 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 21364760 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:16238400-16240200 | Weak transcription | Gastric | stomach |
2 | chr20:16238800-16239400 | Weak transcription | Spleen | Spleen |
3 | chr20:16239600-16240000 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |