rs17660212 chr16:2868291 A>G
- Sequence
cgggcaggggttatggcggccgcc[A/G]gagtgagccagcttggtgtccggg
- ASB in cell types
- K562 (myelogenous leukemia) SK-N-SH (neuroblastoma) CD14+ monocytes cranial neural crest cells
- ASB for transcription factors
- CTCF_HUMAN STAT1_HUMAN AP2A_HUMAN TF65_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (G) 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 | 0.98 | 0.42 | 1.29 | -2.90 | Concordant | |||
| STAT1_HUMAN | 2.08 | -3.20 | 2.50 | n/a | No Hit | |||
| AP2A_HUMAN | 2.43 | n/a | 2.00 | n/a | No Hit | |||
| TF65_HUMAN | 1.86 | -0.03 | 2.33 | n/a | No Hit | |||
| NCOA2_HUMAN | -1.21 | 1.96 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, 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, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood