rs677231 chr11:72793803 A>T
- Sequence
ccagaggtcccggactaggggcgg[A/T]ctaggggccgctctgcctcccgcc
- ASB in cell types
- A549 (lung carcinoma) foreskin keratinocyte HepG2 (hepatoblastoma) thymus-derived CD34- cells
- ASB for transcription factors
- RAD21_HUMAN CTCF_HUMAN BC11B_HUMAN SMC3_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| RAD21_HUMAN | 1.18 | 0.19 | 1.70 | n/a | n/a | |||
| CTCF_HUMAN | 1.05 | 0.47 | 1.53 | -1.82 | Weak Concordant | |||
| BC11B_HUMAN | 0.45 | 2.73 | 1.92 | n/a | n/a | |||
| SMC3_HUMAN | 1.32 | 0.04 | 1.90 | n/a | n/a | |||
| AP2A_HUMAN | 1.71 | -1.56 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP 2 hour glucose, aortic valve calcium, hdl cholesterol, parkinsons disease, triglycerides change with statins
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, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood