rs229513 chr22:37178594 G>A
- Sequence
gaacgtgcccattgggagaagctt[G/A]tcacaaagatctagtggctcttag
- ASB in cell types
- HKC8 (kidney proximal tubule cell line) MCF7 (Invasive ductal breast carcinoma)
- ASB for transcription factors
- EPAS1_HUMAN E2F8_HUMAN GATA3_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| EPAS1_HUMAN | -2.78 | 3.02 | 1.00 | n/a | No Hit | |||
| E2F8_HUMAN | -0.72 | 3.09 | 1.00 | n/a | No Hit | |||
| GATA3_HUMAN | -1.16 | 2.01 | 1.33 | 6.30 | Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Artery_Aorta, Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Liver, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood