rs6648 chr20:49278705 A>G

Sequence
agttgcagtcaggcttcatacgct[A/G]ttgtcctgcccgtaagttcccgtt
ASB in cell types
HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) CD14+ monocytes primary B-CLL cells
ASB for transcription factors
STAT1_HUMAN FOXK2_HUMAN OSR2_HUMAN TP53B_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) ASB
color scale alt
-log10 FDR of Alt (G) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
STAT1_HUMAN 3.38 n/a 1.0·10-61.00 2.00 -0.49 Weak Concordant
FOXK2_HUMAN 1.97 0.27 5.1·10-31.00 1.50 2.67 Discordant
OSR2_HUMAN n/a 3.12 1.007.2·10-3 2.00 n/a No Hit
TP53B_HUMAN 2.36 -4.19 8.4·10-31.00 1.50 n/a n/a
HTF4_HUMAN 2.71 0.26 0.021.00 1.50 n/a No Hit
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Motif analysis

STAT1_HUMAN Weak Concordant
STAT1_HUMAN pic

Genetic associations

GRASP bipolar disorder,  fasting insulin,  height,  homa-ir,  infant head circumference,  obesity with early age of onset (age >2),  triglycerides change with statins,  years of education
GTEx eQTL Adipose_Subcutaneous,  Artery_Aorta,  Artery_Tibial,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Testis,  Thyroid,  Whole_Blood

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