rs3778996 chr7:2137555 G>A

Sequence
cttgcacacaccacctctggccca[G/A]gtgagtgaggggcccaggctgtct
ASB in cell types
ICN12 (primary pre-B acute lymphomablastic leukemia)
ASB for transcription factors
TFE2_HUMAN PBX1_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
TFE2_HUMAN -3.28 2.10 1.008.7·10-3 1.33 -4.28 Discordant
PBX1_HUMAN -2.45 2.48 1.000.02 1.33 n/a No Hit
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Motif analysis

TFE2_HUMAN Discordant
TFE2_HUMAN pic

Genetic associations

GRASP acute lung injury following major trauma,  adiponectin levels
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Tibial,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Small_Intestine_Terminal_Ileum,  Testis,  Thyroid,  Whole_Blood

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