rs3748522 chr12:949522 A>C
- Sequence
gtccaccgcagccccaggttctcg[A/C]cccggaagctgagccttcccacgc
- ASB in cell types
- HEK293 (embryonic kidney) MCF7 (Invasive ductal breast carcinoma) fetal bone marrow-derived mononuclear cells HEK293T (embryonic kidney)
- ASB for transcription factors
- ELF1_HUMAN SP7_HUMAN COT1_HUMAN KMT2A_HUMAN
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-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| ELF1_HUMAN | 1.27 | -0.04 | 1.54 | -2.96 | Concordant | |||
| SP7_HUMAN | n/a | 2.65 | 2.00 | n/a | n/a | |||
| COT1_HUMAN | 1.43 | -1.71 | 1.33 | n/a | No Hit | |||
| KMT2A_HUMAN | 2.16 | 0.19 | 1.25 | n/a | n/a | |||
| CTCF_HUMAN | -0.10 | 0.71 | 1.58 | 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_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, 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, Muscle_Skeletal, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Thyroid, Whole_Blood