rs62241211 chr22:50304182 C>A

Sequence
gccagccccaggctcctccccaga[C/A]agacatccccgggggtggggcaaa
ASB in cell types
HEK293 (embryonic kidney) GM02630 (Fanconi anemi)
ASB for transcription factors
PATZ1_HUMAN GLIS1_HUMAN SCRT2_HUMAN ZN366_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (C) 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
PATZ1_HUMAN 2.95 n/a 3.1·10-41.00 2.00 n/a No Hit
GLIS1_HUMAN 2.12 n/a 1.6·10-31.00 2.00 1.37 Weak Discordant
SCRT2_HUMAN 2.74 -4.97 0.021.00 2.00 n/a No Hit
ZN366_HUMAN 2.84 n/a 0.031.00 2.00 n/a n/a
SP2_HUMAN 1.59 n/a 0.041.00 2.00 -1.25 Weak Concordant
Items per page:
1 – 5 of 5

Motif analysis

GLIS1_HUMAN Weak Discordant
GLIS1_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  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,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Testis,  Thyroid,  Whole_Blood

Download