Variant report
Variant | esv3454148 |
---|---|
Chromosome Location | chr20:16207075-16209211 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2)
- 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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Variant related genes | Relation type |
---|---|
PPIAP17 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs373867853 | chr20:16207076-16207077 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs376585682 | chr20:16207082-16207083 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs59323399 | chr20:16207096-16207097 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs543954045 | chr20:16207146-16207147 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs559996069 | chr20:16207147-16207148 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs149610105 | chr20:16207166-16207167 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs568424022 | chr20:16207186-16207187 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs545142952 | chr20:16207188-16207189 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs576761731 | chr20:16207205-16207206 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs562620681 | chr20:16207210-16207211 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs200909021 | chr20:16207261-16207262 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs138421290 | chr20:16207278-16207279 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs530206566 | chr20:16207335-16207336 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs548807119 | chr20:16207346-16207347 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs545775347 | chr20:16207389-16207390 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs28497853 | chr20:16207482-16207483 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs6034415 | chr20:16207498-16207499 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs371785603 | chr20:16207579-16207580 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs6131799 | chr20:16207638-16207639 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs6131800 | chr20:16207659-16207660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs372416673 | chr20:16207678-16207679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs561241794 | chr20:16207711-16207712 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs181573656 | chr20:16207785-16207786 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs373193311 | chr20:16207806-16207807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs560727488 | chr20:16207824-16207825 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs376966354 | chr20:16207842-16207843 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs370094531 | chr20:16207852-16207853 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs374417685 | chr20:16207950-16207951 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs28532156 | chr20:16207985-16207986 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs62198066 | chr20:16208018-16208019 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs376661129 | chr20:16208023-16208024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs527981880 | chr20:16208031-16208032 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs562392384 | chr20:16208067-16208068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs369090398 | chr20:16208077-16208078 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs372532329 | chr20:16208102-16208103 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs552952622 | chr20:16208112-16208113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs570838978 | chr20:16208113-16208114 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs569840367 | chr20:16208122-16208123 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs538253904 | chr20:16208130-16208131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs549977205 | chr20:16208137-16208138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs377204790 | chr20:16208143-16208144 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs568543725 | chr20:16208161-16208162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs536019364 | chr20:16208188-16208189 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs28601616 | chr20:16208197-16208198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs370389128 | chr20:16208211-16208212 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs373145284 | chr20:16208262-16208263 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs531363989 | chr20:16208288-16208289 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs201221932 | chr20:16208292-16208293 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs28420208 | chr20:16208316-16208317 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs28678829 | chr20:16208318-16208319 | 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 | chr20:16196200-16215600 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
2 | chr20:16207000-16209200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr20:16209200-16209400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
4 | chr20:16209200-16209800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr20:16209200-16209800 | Active TSS | K562 | blood |