rs3772147 chr3:39406572 G>A

Sequence
tgccgctaccggctacagcccaga[G/A]gcccgctcctgcggcgcaagcccg
ASB in cell types
foreskin keratinocyte naive IgD+ B cells CD14+ monocytes fetal bone marrow-derived mononuclear cells
ASB for transcription factors
CTCF_HUMAN FOXP1_HUMAN E2F1_HUMAN KMT2A_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) 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
CTCF_HUMAN 1.29 0.51 1.7·10-141.00 1.30 n/a No Hit
FOXP1_HUMAN 3.08 -4.94 1.2·10-41.00 2.00 n/a No Hit
E2F1_HUMAN -0.24 1.41 1.001.0·10-3 1.21 n/a No Hit
KMT2A_HUMAN 3.07 n/a 1.8·10-31.00 1.50 -1.00 Weak Concordant
STAT1_HUMAN 2.76 -0.03 3.8·10-31.00 1.33 n/a No Hit
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Motif analysis

KMT2A_HUMAN Weak Concordant
KMT2A_HUMAN pic

Genetic associations

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_Spinal_cord_cervical_c-1,  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,  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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