rs6060266 chr20:35145275 T>C
- Sequence
atagtctggcattctcctctacca[T/C]tgggaggcagtataagattgcagc
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line) A673 (Ewing sarcoma) RH4 (alveolar rhabdomyosarcoma)
- ASB for transcription factors
- CTCF_HUMAN REST_HUMAN SMC1A_HUMAN DACH1_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 | 0.45 | 1.68 | 1.78 | 3.85 | Concordant | |||
| REST_HUMAN | -0.44 | 1.22 | 2.00 | n/a | No Hit | |||
| SMC1A_HUMAN | -0.52 | 2.02 | 1.00 | n/a | n/a | |||
| DACH1_HUMAN | n/a | 2.16 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP chronic kidney disease, college completion, hdl cholesterol, height, ldl cholesterol, parkinsons disease, plasma protein-c levels, serum creatinine, triglycerides, triglycerides change with statins, waist hip ratio, years of education
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, 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, 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, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood