rs1664696 chr19:37210672 C>G
- Sequence
cgtgcagtttccgtaatcggcgct[C/G]acgggcagagaatataaccgcgcc
- ASB in cell types
- MCF7 (Invasive ductal breast carcinoma) foreskin keratinocyte K562 (myelogenous leukemia) GM12878 (female B-cells)
- ASB for transcription factors
- PKNX1_HUMAN FOXA1_HUMAN CTCF_HUMAN GATA3_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| PKNX1_HUMAN | -1.19 | 2.53 | 1.50 | 3.42 | Concordant | |||
| FOXA1_HUMAN | -0.20 | 1.37 | 2.09 | n/a | No Hit | |||
| CTCF_HUMAN | 1.16 | 0.42 | 1.39 | n/a | No Hit | |||
| GATA3_HUMAN | n/a | 2.69 | 3.00 | n/a | No Hit | |||
| BHE40_HUMAN | 1.64 | -1.26 | 1.33 | -6.02 | Concordant |
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Motif analysis
Genetic associations
GRASP ldl cholesterol change with statins, microalbuminuria, rheumatoid arthritis, total cholesterol change with statins
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Amygdala, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, 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, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood