rs7644184 chr3:125916030 T>C

Sequence
cctgggcccctccccacgtcggcc[T/C]gtcctaagatccgcctcccagagt
ASB in cell types
HepG2 (hepatoblastoma) liver
ASB for transcription factors
CREB1_HUMAN SP1_HUMAN RAD21_HUMAN RFXK_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CREB1_HUMAN 2.83 -2.82 1.5·10-31.00 1.00 n/a No Hit
SP1_HUMAN 2.82 -2.71 4.8·10-31.00 1.00 1.10 Weak Discordant
RAD21_HUMAN 2.17 n/a 0.021.00 1.00 n/a n/a
RFXK_HUMAN 2.54 n/a 0.051.00 2.00 n/a n/a
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Motif analysis

SP1_HUMAN Weak Discordant
SP1_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  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,  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,  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,  Whole_Blood

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