rs3749034 chr2:170816965 G>A

Sequence
tggaggtgacgccgggcagattac[G/A]cctgtcagggccgagccgagcgga
ASB in cell types
K562 (myelogenous leukemia) neural progenitors MOLM14 (Adult acute myeloid leukemia) HepG2 (hepatoblastoma)
ASB for transcription factors
TAF9B_HUMAN MNT_HUMAN NRF1_HUMAN VEZF1_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
TAF9B_HUMAN 3.50 -3.84 5.7·10-51.00 1.00 n/a n/a
MNT_HUMAN 2.61 -0.67 9.3·10-51.00 1.00 n/a No Hit
NRF1_HUMAN 2.44 -1.73 4.4·10-41.00 1.00 n/a No Hit
VEZF1_HUMAN 2.50 -1.66 5.0·10-41.00 1.00 n/a No Hit
NELFA_HUMAN 2.50 -4.89 1.3·10-31.00 1.50 n/a n/a
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Motif analysis

No data available

Genetic associations

EMBL-EBI intelligence
GRASP asparaginase sensitivity in cell lines,  asthma,  prop taste detection threshold,  pulmonary arterial hypertension (pah),  refractive error
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Tibial,  Brain_Amygdala,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Lung,  Nerve_Tibial,  Pancreas,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Stomach,  Thyroid

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