rs2999607 chr1:148334750 C>G

Sequence
aaaacaaccttcataacgtcctct[C/G]cgatgccaggtaattaggagttca
ASB in cell types
K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line) MV-4-11 (Childhood acute monocytic leukemia) renal cortex
ASB for transcription factors
FOXK2_HUMAN NELFA_HUMAN BRD4_HUMAN RARA_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
FOXK2_HUMAN 3.73 -3.77 2.9·10-71.00 1.67 n/a n/a
NELFA_HUMAN 2.02 n/a 5.1·10-41.00 2.00 n/a n/a
BRD4_HUMAN 1.79 -0.01 5.7·10-41.00 2.16 n/a n/a
RARA_HUMAN 1.21 0.62 3.9·10-31.00 1.00 n/a No Hit
MAF_HUMAN 2.03 -4.34 6.6·10-31.00 2.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

GRASP advanced age-related macular degeneration
GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Adrenal_Gland Artery_Aorta Artery_Coronary Artery_Tibial Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Cortex Brain_Frontal_Cortex_BA9 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 Lung Muscle_Skeletal Nerve_Tibial Pancreas Pituitary Prostate Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Small_Intestine_Terminal_Ileum Spleen Thyroid Whole_Blood

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