rs2110165 chr12:21437854 C>A

Sequence
ggcggttccgcctctttccccgac[C/A]ccaaaggggatagcactggaggcc
ASB in cell types
HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) HepG2 (hepatoblastoma) spleen
ASB for transcription factors
TYY1_HUMAN RBBP5_HUMAN FOXK2_HUMAN BACH1_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (C) ASB
color scale alt
-log10 FDR of Alt (A) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
TYY1_HUMAN 1.42 1.13 5.8·10-31.00 1.64 n/a No Hit
RBBP5_HUMAN 2.20 -4.66 0.021.00 2.00 n/a n/a
FOXK2_HUMAN 2.55 -2.48 0.021.00 1.50 n/a No Hit
BACH1_HUMAN 2.42 -2.26 0.031.00 1.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

GRASP eye color,  hdl cholesterol,  maternal transmission distortion,  obesity with early age of onset (age >2),  stabilized warfarin dose,  tetrology of fallot,  transmission distortion,  triglycerides
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hippocampus,  Brain_Hypothalamus,  Brain_Putamen_basal_ganglia,  Brain_Spinal_cord_cervical_c-1,  Brain_Substantia_nigra,  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,  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

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