rs136991 chr22:42552230 T>C
- Sequence
aaggagccctctggtggccctgtc[T/C]gggcataacagaaggctcgcactc
- ASB in cell types
- foreskin keratinocyte neural cell GM19238 (female B-cells lymphoblastoid cell lines) WA01 (H1, human embryonic stem cells)
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN TIF1B_HUMAN IRF4_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 | 1.22 | 0.59 | 1.28 | -1.30 | Weak Concordant | |||
| RAD21_HUMAN | 2.15 | -1.28 | 1.50 | n/a | n/a | |||
| TIF1B_HUMAN | 1.98 | -0.68 | 1.00 | n/a | n/a | |||
| IRF4_HUMAN | 1.92 | -2.16 | 1.00 | n/a | No Hit | |||
| SMC3_HUMAN | 2.33 | -1.93 | 1.00 | 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, Artery_Tibial, 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, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Kidney_Cortex, 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