rs674310 chr17:48814600 G>C
- Sequence
acagcacgaaaatgtcctacattg[G/C]ccaccagggggagggaatgagcac
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) BJ (fibroblasts) THP-1 (acute monocytic leukemia) HT1080 (fibrosarcoma)
- ASB for transcription factors
- CTCF_HUMAN STAG1_HUMAN SMC1A_HUMAN NFIC_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.16 | 0.78 | 1.31 | -3.07 | Concordant | |||
| STAG1_HUMAN | 0.59 | -0.01 | 1.00 | n/a | n/a | |||
| SMC1A_HUMAN | 1.64 | -0.32 | 1.33 | n/a | n/a | |||
| NFIC_HUMAN | -1.66 | 2.71 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, 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, Pancreas, Pituitary, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood