rs3753069 chr18:46098069 T>C
- Sequence
gccacgggtgcaagatggcggcat[T/C]cgccacagcccctcgccctcctgc
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) HEK293 (embryonic kidney) SEM (childhood B acute lymphoblastic leukemia) T-cells
- ASB for transcription factors
- ERG_HUMAN RAG2_HUMAN FOXK2_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (C) ASB
Details
Transcription factors
Cell types
Uniprot ID | Effect size Ref | Effect size Alt | FDR Ref | FDR Alt | Mean BAD | Motif fold change | Motif concordance | |
|---|---|---|---|---|---|---|---|---|
| ERG_HUMAN | -0.69 | 1.43 | 1.50 | 3.38 | Concordant | |||
| RAG2_HUMAN | 2.25 | -4.19 | 1.50 | n/a | n/a | |||
| FOXK2_HUMAN | -0.60 | 2.15 | 1.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd
GTEx eQTL Adipose_Subcutaneous, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Whole_Blood