rs430973 chr17:58631845 T>G
- Sequence
ctcaaaatatagtcttaatgtcca[T/G]ttatgtgccttccacatgcgaaag
- ASB in cell types
- MCF7 (Invasive ductal breast carcinoma) K562 (myelogenous leukemia) HCT-116 (colon carcinoma) H1 (embryonic stem cells)
- ASB for transcription factors
- CTCF_HUMAN TBP_HUMAN GATA3_HUMAN ETV6_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 0.43 | 1.25 | 1.49 | n/a | No Hit | |||
| TBP_HUMAN | 2.16 | -2.05 | 1.67 | -4.34 | Concordant | |||
| GATA3_HUMAN | 0.18 | 1.22 | 4.00 | n/a | No Hit | |||
| ETV6_HUMAN | -0.22 | 2.59 | 1.42 | n/a | n/a | |||
| MAFK_HUMAN | n/a | 4.70 | 6.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP birth weight, chronic kidney disease, college completion, mitral annular calcium, serum creatinine, systolic blood pressure (sbp), years of education
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_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, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Kidney_Cortex, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Uterus, Whole_Blood