rs392389 chr22:23315687 A>G

Sequence
aaagccgaaggacaggtggcctgg[A/G]aagatcccgcccaggtctgggagc
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line) GM18486 (Lymphoblastoid Cell Lines) neural cell pancreas
ASB for transcription factors
CTCF_HUMAN STAG1_HUMAN SMC3_HUMAN RAD21_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
CTCF_HUMAN 2.64 -0.15 8.5·10-1181.00 2.64 n/a No Hit
STAG1_HUMAN 3.08 0.56 4.1·10-151.00 3.31 n/a n/a
SMC3_HUMAN 3.16 n/a 9.1·10-61.00 2.00 n/a n/a
RAD21_HUMAN 1.88 -0.38 4.3·10-40.94 2.60 n/a n/a
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Motif analysis

No data available

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Amygdala,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hippocampus,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Brain_Substantia_nigra,  Breast_Mammary_Tissue,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Liver,  Lung,  Minor_Salivary_Gland,  Nerve_Tibial,  Ovary,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Uterus,  Whole_Blood

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