rs11748963 chr5:139394348 T>C
- Sequence
gtctgcacgaagcccgcggcggcc[T/C]gcagggggcccagcgactcgtcca
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) ID00014 (lymphoblastoid cell, DiGeorge syndrome) erythroid cells GM19238 (female B-cells lymphoblastoid cell lines)
- ASB for transcription factors
- CTCF_HUMAN IKZF1_HUMAN ZN687_HUMAN ZN143_HUMAN
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-log10 FDR of Ref (T) 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 | 2.71 | -0.72 | 2.44 | -0.57 | Weak Concordant | |||
| IKZF1_HUMAN | 3.69 | -3.42 | 1.00 | n/a | n/a | |||
| ZN687_HUMAN | 3.52 | -3.40 | 1.00 | n/a | n/a | |||
| ZN143_HUMAN | 2.83 | -2.70 | 1.00 | n/a | No Hit | |||
| BACH1_HUMAN | 2.90 | -2.88 | 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_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_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, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood