rs7300039 chr12:959012 A>T

Sequence
tgatagcagctgtactactgatcc[A/T]ggcgctgtcactccgcccaccaga
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line) NALM-6 (adult B acute lymphoblastic leukemia)
ASB for transcription factors
PKNX1_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) 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
PKNX1_HUMAN n/a 2.67 1.001.7·10-4 2.00 -0.44 Weak Discordant
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Motif analysis

PKNX1_HUMAN Weak Discordant
PKNX1_HUMAN pic

Genetic associations

GRASP obesity with early age of onset (age >2),  rheumatoid arthritis
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Stomach,  Thyroid,  Whole_Blood

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