rs7966700 chr12:6493347 T>C
- Sequence
ggcaggaggggcctctaccaccct[T/C]cccgcctcagtgcttccggtccgc
- ASB in cell types
- liver MDA-MB-453 (breast adenocarcinoma) Ishikawa (endometrial adenocarcinoma) spleen
- ASB for transcription factors
- CTCF_HUMAN GABPA_HUMAN TAF1_HUMAN KLF11_HUMAN
View in PheLiGe Color scale
-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 | 0.86 | 0.15 | 1.17 | n/a | No Hit | |||
| GABPA_HUMAN | 1.67 | -1.59 | 1.33 | -3.99 | Concordant | |||
| TAF1_HUMAN | 2.04 | n/a | 2.00 | n/a | No Hit | |||
| KLF11_HUMAN | 1.28 | -1.08 | 1.33 | n/a | n/a | |||
| KLF9_HUMAN | 1.75 | -1.78 | 1.33 | 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_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, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, 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, Whole_Blood