rs12265487 chr10:80029426 A>G

Sequence
ttgtctagagctgccctctcctgg[A/G]aagaggaaggcatgactgctcttc
ASB in cell types
GM19099 (female B-cells Lymphoblastoid Cell Lines) GM23338 pancreas GM18505 (female B-cells Lymphoblastoid Cell Lines)
ASB for transcription factors
CTCF_HUMAN STAG1_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 3.23 -1.17 7.6·10-271.00 3.25 -0.70 Weak Concordant
STAG1_HUMAN 1.78 n/a 1.4·10-31.00 3.83 n/a n/a
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Motif analysis

CTCF_HUMAN Weak Concordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Liver,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid

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