rs13419763 chr2:218270227 C>T
- Sequence
ccagcaggaagagcgacggccgtt[C/T]ggccaatagctacgaaggttggct
- ASB in cell types
- adult erythroblasts HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) U87 (glioblastoma)
- ASB for transcription factors
- HCFC1_HUMAN RBBP5_HUMAN PKNX1_HUMAN PATZ1_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| HCFC1_HUMAN | n/a | 1.21 | 5.00 | n/a | n/a | |||
| RBBP5_HUMAN | 2.16 | -2.37 | 5.00 | n/a | n/a | |||
| PKNX1_HUMAN | -0.12 | 0.26 | 1.50 | -0.70 | Weak Discordant | |||
| PATZ1_HUMAN | -2.31 | 2.73 | 1.00 | n/a | No Hit | |||
| PBX3_HUMAN | 1.46 | 1.56 | 1.25 | -1.54 | Weak Discordant |
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Motif analysis
Genetic associations
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, 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, 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, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood