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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