rs515437 chr1:28247532 T>A

Sequence
ggcgtcctggggtcaaaaaaacaa[T/A]actagccacagtttattaaactgc
ASB in cell types
K562 (myelogenous leukemia) HEK293 (embryonic kidney)
ASB for transcription factors
SOX6_HUMAN FOXK2_HUMAN ZBT44_HUMAN GCR_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) 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
SOX6_HUMAN 2.33 -1.99 0.021.00 1.00 -0.96 Weak Concordant
FOXK2_HUMAN 1.35 0.10 0.031.00 1.25 n/a No Hit
ZBT44_HUMAN -1.94 2.89 1.000.03 2.00 n/a No Hit
GCR_HUMAN 1.17 0.41 0.041.00 1.00 n/a No Hit
SPT5H_HUMAN 1.10 -0.38 0.051.00 1.00 n/a n/a
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Motif analysis

SOX6_HUMAN Weak Concordant
SOX6_HUMAN pic

Genetic associations

GRASP advanced age-related macular degeneration (geographic atrophy)
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,  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,  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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