rs590460 chr12:50056193 T>C
- Sequence
ggctgcccgggggcatagcaaccc[T/C]ccagcactgcctggtaccgctgaa
- ASB in cell types
- 22RV1 (prostate carcinoma) neural cell CD34+ hematopoietic stem cells H1 (embryonic stem cells)
- ASB for transcription factors
- CTCF_HUMAN REST_HUMAN RAD21_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 | 0.83 | 0.83 | 1.31 | n/a | No Hit | |||
| REST_HUMAN | 1.75 | -1.03 | 1.33 | n/a | No Hit | |||
| RAD21_HUMAN | 0.74 | 0.18 | 1.40 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP age at death with kuru exposure, college completion, ldl cholesterol change with statins, prop taste detection threshold, serum creatinine, spine bone mineral density (bmd), systolic blood pressure (sbp)
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, 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_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, 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, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood