Variant report
Variant | esv3435384 |
---|---|
Chromosome Location | chr11:58640776-58644374 |
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 |
---|---|
GLYATL1P2 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs554369353 | chr11:58640785-58640786 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs7946506 | chr11:58640813-58640814 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs574171811 | chr11:58640826-58640827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs538092877 | chr11:58640834-58640835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs556424653 | chr11:58640839-58640840 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs577945501 | chr11:58640847-58640848 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs372614337 | chr11:58640894-58640895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs545314732 | chr11:58640899-58640900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs553714489 | chr11:58640953-58640954 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs187145645 | chr11:58640984-58640985 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs147402286 | chr11:58640992-58640993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs3020907 | chr11:58641019-58641020 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs531524546 | chr11:58641020-58641021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs543290315 | chr11:58641023-58641024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs565157889 | chr11:58641048-58641049 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs182472699 | chr11:58641062-58641063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs547731690 | chr11:58641071-58641072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs373902576 | chr11:58641072-58641073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs529701351 | chr11:58641073-58641074 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs377532526 | chr11:58641079-58641080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs548255138 | chr11:58641092-58641093 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs569681805 | chr11:58641096-58641097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs371089375 | chr11:58641124-58641125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs556309963 | chr11:58641125-58641126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs554824470 | chr11:58641131-58641132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs571522196 | chr11:58641156-58641157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs534127577 | chr11:58641165-58641166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs373634785 | chr11:58641190-58641191 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs554049021 | chr11:58641207-58641208 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs560627161 | chr11:58641221-58641222 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs572401951 | chr11:58641237-58641238 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs78074411 | chr11:58641260-58641261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs555031438 | chr11:58641322-58641323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs201689285 | chr11:58641380-58641381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs199886081 | chr11:58641382-58641383 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs570436714 | chr11:58641383-58641384 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs189981051 | chr11:58641404-58641405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs539072656 | chr11:58641439-58641440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs182567318 | chr11:58641472-58641473 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs532348893 | chr11:58641474-58641475 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs139699754 | chr11:58641475-58641476 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs559425586 | chr11:58641488-58641489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs529673894 | chr11:58641503-58641504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs187222649 | chr11:58641532-58641533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs569655412 | chr11:58641550-58641551 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs530488253 | chr11:58641570-58641571 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs192082519 | chr11:58641574-58641575 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs78846417 | chr11:58641577-58641578 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs147698867 | chr11:58641586-58641587 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs547674991 | chr11:58641599-58641600 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Wilms tumour | 21544195 | CNVD |
Autism | 22495311 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 21637783 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Chronic lymphocytic leukemia | 21795749 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Oral cancer | 21386901 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 20837533 | CNVD |
Breast cancer | 21264507 | CNVD |
Cervical cancer | 21063398 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Liposarcoma | 21253554 | CNVD |
Neuroblastoma | 18923524 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Pituitary adenoma | 18645599 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Prostate cancer | 18632612 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Smith-Lemli-Opitz syndrome | 21572526 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Cancer | 16751803 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495309 | CNVD |
Autism | 20808228 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Cancer | 20164919 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:58635000-58668000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr11:58643600-58644800 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |