rs3744061 chr17:76737321 G>A

Sequence
cgggctccgcaggctagcgcacct[G/A]agtaacaactgggcgggcagccgg
ASB in cell types
K562 (myelogenous leukemia) HepG2 (hepatoblastoma) fetal bone marrow-derived mononuclear cells HEK293T (embryonic kidney)
ASB for transcription factors
KMT2A_HUMAN MEN1_HUMAN NELFA_HUMAN SNAI2_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
KMT2A_HUMAN 2.01 -0.26 2.8·10-41.00 1.07 n/a No Hit
MEN1_HUMAN 1.84 n/a 2.0·10-31.00 2.50 n/a n/a
NELFA_HUMAN n/a 0.67 1.002.9·10-3 1.50 n/a n/a
SNAI2_HUMAN 1.61 -2.81 0.021.00 1.50 n/a No Hit
RBM25_HUMAN -0.14 1.23 0.980.04 2.00 n/a n/a
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Motif analysis

No data available

Genetic associations

EMBL-EBI retinal arteriolar caliber
GRASP advanced age-related macular degeneration,  college completion,  cystatin c in serum,  total cholesterol,  type 2 diabetes,  years of education
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hypothalamus,  Brain_Spinal_cord_cervical_c-1,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Left_Ventricle,  Liver,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Testis,  Thyroid,  Whole_Blood

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