rs816407 chr7:56106447 G>T
- Sequence
gcgacggctaggcctccggacgtg[G/T]gacaaccaccgaagagctaagcga
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) hMADS-3 (adipose-derived stem cells) HepG2 (hepatoblastoma)
- ASB for transcription factors
- KLF11_HUMAN RBBP5_HUMAN GABPA_HUMAN STAT1_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| KLF11_HUMAN | 2.42 | -2.08 | 1.00 | n/a | No Hit | |||
| RBBP5_HUMAN | n/a | 3.00 | 2.50 | n/a | n/a | |||
| GABPA_HUMAN | 1.19 | -0.11 | 1.56 | -1.29 | Weak Concordant | |||
| STAT1_HUMAN | 0.45 | 1.97 | 1.67 | n/a | No Hit | |||
| FOXK2_HUMAN | -1.67 | 2.06 | 1.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, 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, Lung, Muscle_Skeletal, Nerve_Tibial, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Stomach, Testis, Thyroid, Vagina, Whole_Blood