rs1386502 chr19:43789204 T>C
- Sequence
gcatttcttcatttccctgtcttt[T/C]gtcctccgttagttgagttgctgt
- ASB in cell types
- CTV-1 (Adult T acute lymphoblastic leukemia) GM12878 (female B-cells lymphoblastoid cell line) HCT-116 (colon carcinoma) K562 (myelogenous leukemia)
- ASB for transcription factors
- REST_HUMAN SPI1_HUMAN AFF1_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 | |
|---|---|---|---|---|---|---|---|---|
| REST_HUMAN | 1.49 | 0.69 | 1.68 | 0.37 | Weak Discordant | |||
| SPI1_HUMAN | 1.48 | 0.50 | 1.50 | n/a | No Hit | |||
| AFF1_HUMAN | 1.54 | n/a | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP adiponectin levels, birth weight, chronic kidney disease, primary rhegmatogenous retinal detachment, serum creatinine
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_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood