rs743022 chr20:23420492 G>C
- Sequence
ccctcgccggaccgccccctcccc[G/C]gcggggcccacctgcaggcgggac
- ASB in cell types
- HEK293 (embryonic kidney) K562 (myelogenous leukemia) MDA-MB-453 (breast adenocarcinoma)
- ASB for transcription factors
- GLIS1_HUMAN GLIS2_HUMAN EGR2_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| GLIS1_HUMAN | -1.25 | 2.78 | 2.00 | n/a | n/a | |||
| GLIS2_HUMAN | n/a | 2.60 | 2.00 | n/a | n/a | |||
| EGR2_HUMAN | -0.81 | 1.90 | 2.00 | 3.06 | Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Brain_Caudate_basal_ganglia, Brain_Nucleus_accumbens_basal_ganglia, Cells_Cultured_fibroblasts, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis