rs12137239 chr1:28245696 C>T
- Sequence
tacttttagtagagacggggtttc[C/T]ccatgttggtcaggctggtttcaa
- ASB in cell types
- GM12878 (female B-cells) K562 (myelogenous leukemia) HEK293T (embryonic kidney)
- ASB for transcription factors
- IKZF2_HUMAN IKZF1_HUMAN RELB_HUMAN NBN_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| IKZF2_HUMAN | 2.90 | -2.87 | 1.33 | n/a | n/a | |||
| IKZF1_HUMAN | 3.10 | n/a | 3.67 | n/a | No Hit | |||
| RELB_HUMAN | 3.10 | n/a | 1.33 | -3.23 | Concordant | |||
| NBN_HUMAN | 2.67 | n/a | 1.33 | n/a | n/a | |||
| MEF2B_HUMAN | 2.08 | -1.88 | 1.33 | n/a | No Hit |
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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, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood