rs12034421 chr1:85062323 C>A
- Sequence
gaggactcgcctcttttctcttag[C/A]gacagatgcgtcctggcaacagtc
- ASB in cell types
- MCF7 (Invasive ductal breast carcinoma) GM12878 (female B-cells lymphoblastoid cell line) breast tumor HEK293 (embryonic kidney)
- ASB for transcription factors
- CREB1_HUMAN PKNX1_HUMAN ESR1_HUMAN FOXK2_HUMAN
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-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| CREB1_HUMAN | 2.52 | 0.08 | 1.40 | n/a | No Hit | |||
| PKNX1_HUMAN | 1.79 | -0.27 | 2.11 | -2.09 | Concordant | |||
| ESR1_HUMAN | 2.81 | -5.04 | 2.00 | n/a | No Hit | |||
| FOXK2_HUMAN | 1.99 | -1.45 | 1.25 | n/a | No Hit | |||
| SRF_HUMAN | 2.42 | -2.26 | 1.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, 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, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Minor_Salivary_Gland, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid