Variant report
Variant | esv3439142 |
---|---|
Chromosome Location | chr21:14360741-14364239 |
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 | rs556712038 | chr21:14360746-14360747 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs575471914 | chr21:14360770-14360771 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs544425746 | chr21:14360786-14360787 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs564222784 | chr21:14360790-14360791 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs201539576 | chr21:14360798-14360799 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs199699150 | chr21:14360799-14360800 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs62221095 | chr21:14360802-14360803 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs577905854 | chr21:14360825-14360826 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs539828273 | chr21:14360828-14360829 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs113034034 | chr21:14360853-14360854 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs150032526 | chr21:14360873-14360874 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs8127233 | chr21:14360890-14360891 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs528901025 | chr21:14360893-14360894 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs542279353 | chr21:14360896-14360897 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs562251336 | chr21:14360900-14360901 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs111746635 | chr21:14360902-14360903 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs531743132 | chr21:14360906-14360907 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs79193377 | chr21:14360908-14360909 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs551605192 | chr21:14360924-14360925 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs113186537 | chr21:14360934-14360935 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs199627002 | chr21:14360938-14360939 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs376315675 | chr21:14360944-14360945 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs79892811 | chr21:14360945-14360946 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs571832554 | chr21:14360965-14360966 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs4461339 | chr21:14360978-14360979 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs199809546 | chr21:14360981-14360982 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs77839095 | chr21:14360987-14360988 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs78599751 | chr21:14360990-14360991 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs58236971 | chr21:14360992-14360993 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs76369611 | chr21:14360995-14360996 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs78672822 | chr21:14361000-14361001 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs77259860 | chr21:14361006-14361007 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs80217532 | chr21:14361009-14361010 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs62221097 | chr21:14361012-14361013 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs79214133 | chr21:14361019-14361020 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs547797245 | chr21:14361022-14361023 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs77152272 | chr21:14361030-14361031 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs111391576 | chr21:14361032-14361033 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs74590297 | chr21:14361034-14361035 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs78072394 | chr21:14361036-14361037 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs77656798 | chr21:14361044-14361045 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs75933495 | chr21:14361048-14361049 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs75350902 | chr21:14361054-14361055 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs79607890 | chr21:14361056-14361057 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs78731637 | chr21:14361058-14361059 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs74440302 | chr21:14361060-14361061 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs77964309 | chr21:14361061-14361062 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs567618273 | chr21:14361064-14361065 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs77405915 | chr21:14361065-14361066 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs78120985 | chr21:14361066-14361067 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Ovarian cancer | 21720365 | CNVD |
Wilms tumour | 21544195 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Cancer | 16751803 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
Down syndrome | 17412756 | CNVD |
Down syndrome | 17576883 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Breast cancer | 21509527 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Seminomas | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Congenital abnormalities | 21549014 | CNVD |
Developmental delay | 21549014 | CNVD |
Mental retardation | 21549014 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Prostate cancer | 19156837 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Breast cancer | 20409316 | CNVD |
Autism | 18414403 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr21:14338200-14363600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
2 | chr21:14354600-14369200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr21:14357600-14368800 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
4 | chr21:14358200-14361200 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
5 | chr21:14358600-14362800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
6 | chr21:14358800-14368800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
7 | chr21:14359800-14363000 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
8 | chr21:14360400-14360800 | ZNF genes & repeats | NH-A | brain |
9 | chr21:14360400-14361000 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
10 | chr21:14360600-14361400 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
11 | chr21:14362400-14362800 | ZNF genes & repeats | Liver | Liver |
12 | chr21:14362400-14362800 | ZNF genes & repeats | Fetal Heart | heart |
13 | chr21:14362600-14362800 | ZNF genes & repeats | Stomach Mucosa | stomach |
14 | chr21:14362600-14362800 | ZNF genes & repeats | K562 | blood |
15 | chr21:14362800-14365200 | Weak transcription | Brain Substantia Nigra | brain |
16 | chr21:14362800-14365200 | Weak transcription | Stomach Mucosa | stomach |
17 | chr21:14362800-14365200 | Weak transcription | K562 | blood |
18 | chr21:14364000-14368800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
19 | chr21:14364200-14364600 | Weak transcription | Adipose Nuclei | Adipose |