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 n/a n/a
FOXK2_HUMAN 1.35 0.10 0.031.00 1.25 n/a n/a
ZBT44_HUMAN -1.94 2.89 1.000.03 2.00 n/a n/a
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

No data available

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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