rs189050 chr17:44095884 G>C
- Sequence
cggctggggagaggaaggctgctg[G/C]ggaggggaaggcagtggagggcct
- ASB in cell types
- HepG2 (hepatoblastoma) K562 (myelogenous leukemia) GM12878 (female B-cells) A549 (lung carcinoma)
- ASB for transcription factors
- ZBT8A_HUMAN SP3_HUMAN IKZF1_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| ZBT8A_HUMAN | 2.09 | -0.64 | 2.00 | n/a | n/a | |||
| SP3_HUMAN | -1.64 | 1.92 | 1.33 | -5.97 | Discordant | |||
| IKZF1_HUMAN | 1.36 | 0.16 | 1.56 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Frontal_Cortex_BA9, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood