rs12732295 chr1:26275760 C>T
- Sequence
ctggcctagtgcctaggaaggaac[C/T]tccttgagttaggattgtcacatg
- ASB in cell types
- GM12878 (female B-cells) K562 (myelogenous leukemia) SK-N-SH (neuroblastoma) lymphoblastoid cells
- ASB for transcription factors
- ELF1_HUMAN ELF4_HUMAN IKZF1_HUMAN USF1_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 | |
|---|---|---|---|---|---|---|---|---|
| ELF1_HUMAN | -1.14 | 2.21 | 1.33 | 4.59 | Concordant | |||
| ELF4_HUMAN | -2.89 | 2.66 | 1.33 | n/a | n/a | |||
| IKZF1_HUMAN | -1.08 | 1.46 | 1.33 | n/a | No Hit | |||
| USF1_HUMAN | 0.01 | 1.18 | 1.39 | n/a | No Hit | |||
| ATF1_HUMAN | n/a | 1.68 | 1.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood