rs2413737 chr22:42965137 C>G
- Sequence
gctactgacagatgtgacatggat[C/G]aatcacaaaaacatcatgctgagc
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) neural cell WA09 (embryonic stem cells) HUES64 (embryonic stem cells)
- ASB for transcription factors
- PKNX1_HUMAN EP300_HUMAN NANOG_HUMAN IKZF2_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 | -4.28 | 3.97 | 1.00 | -1.01 | Weak Discordant | |||
| EP300_HUMAN | 3.69 | 0.95 | 1.00 | n/a | n/a | |||
| NANOG_HUMAN | -0.14 | 2.08 | 1.33 | 1.58 | Weak Concordant | |||
| IKZF2_HUMAN | -1.50 | 2.03 | 1.50 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Putamen_basal_ganglia, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Thyroid, Whole_Blood