rs2796268 chr1:207751847 G>A
- Sequence
atgacggcgagccagtcctttccc[G/A]caggacgcctcaggcttccgggat
- ASB in cell types
- K562 (myelogenous leukemia) MDA-MB-453 (breast adenocarcinoma) GM12878 (female B-cells) CWR22 (prostate carcinoma)
- ASB for transcription factors
- NCOR1_HUMAN CTCF_HUMAN SMCA4_HUMAN HDAC2_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| NCOR1_HUMAN | -1.23 | 2.44 | 2.67 | n/a | n/a | |||
| CTCF_HUMAN | 0.41 | 0.67 | 1.19 | n/a | No Hit | |||
| SMCA4_HUMAN | -3.03 | 2.41 | 2.50 | n/a | n/a | |||
| HDAC2_HUMAN | -3.45 | 2.20 | 2.50 | n/a | n/a | |||
| HDAC1_HUMAN | -3.15 | 2.01 | 2.67 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, 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, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Nerve_Tibial, Ovary, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen