rs748251 chr20:63958024 G>A
- Sequence
atcaggccgaggtgtgcgtgggtg[G/A]ggggagtccgggtctccacaccca
- ASB in cell types
- K562 (myelogenous leukemia) T47D (invasive ductal carcinoma) MCF7 (Invasive ductal breast carcinoma)
- ASB for transcription factors
- EGR1_HUMAN CREB1_HUMAN HIF1A_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 | |
|---|---|---|---|---|---|---|---|---|
| EGR1_HUMAN | 1.92 | -1.18 | 2.00 | -8.61 | Concordant | |||
| CREB1_HUMAN | 1.78 | n/a | 2.00 | n/a | No Hit | |||
| HIF1A_HUMAN | 1.91 | -1.69 | 1.50 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Liver, Muscle_Skeletal, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Thyroid, Whole_Blood