rs11718493 chr3:126529005 C>T

Sequence
gcttgctggggcctggctgccctg[C/T]ttatctcctcttgcaacactgtaa
ASB in cell types
HepG2 (hepatoblastoma) pancreas adrenal gland iPSC-derived cardiomyocytes
ASB for transcription factors
CTCF_HUMAN SP130_HUMAN MAX_HUMAN TBX5_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CTCF_HUMAN 2.90 0.74 8.9·10-51.00 1.33 n/a No Hit
SP130_HUMAN 3.03 -2.69 1.2·10-41.00 1.00 n/a n/a
MAX_HUMAN 2.33 -1.89 2.3·10-31.00 1.00 n/a No Hit
TBX5_HUMAN 2.13 -1.64 3.9·10-31.00 1.00 n/a No Hit
MNT_HUMAN 2.15 -0.56 0.021.00 1.17 n/a No Hit
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Motif analysis

FOXK2_HUMAN Concordant
FOXK2_HUMAN pic

Genetic associations

GRASP birth weight
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Brain_Spinal_cord_cervical_c-1,  Brain_Substantia_nigra,  Breast_Mammary_Tissue,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Lung,  Minor_Salivary_Gland,  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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