rs3754907 chr2:20051997 C>T

Sequence
atggcagaaagcgggcacaagggg[C/T]ttttctgagcaatgtgtgccacgt
ASB in cell types
HepG2 (hepatoblastoma) K562 (myelogenous leukemia) adult erythroblasts GM12878 (female B-cells lymphoblastoid cell line)
ASB for transcription factors
RBM25_HUMAN RBBP5_HUMAN STAT1_HUMAN FOXK2_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
RBM25_HUMAN 1.42 -1.60 1.8·10-51.00 4.00 n/a n/a
RBBP5_HUMAN 2.39 -4.07 4.8·10-41.00 1.50 n/a n/a
STAT1_HUMAN 2.97 n/a 3.7·10-31.00 3.00 n/a No Hit
FOXK2_HUMAN 1.60 0.36 0.021.00 1.88 n/a No Hit
VEZF1_HUMAN 1.86 -1.33 0.041.00 2.00 -0.25 Weak Concordant
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Motif analysis

VEZF1_HUMAN Weak Concordant
VEZF1_HUMAN pic

Genetic associations

GRASP diastolic blood pressure (dbp),  height,  hypertension (early onset hypertension),  serum creatinine,  waist hip ratio
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Tibial,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Lung,  Muscle_Skeletal,  Pituitary,  Testis,  Thyroid

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