rs11543 chr10:75210855 G>C

Sequence
cttcacttcgccctccagctgctg[G/C]agctgcagcccgaccgcgagcgtg
ASB in cell types
HepG2 (hepatoblastoma) K562 (myelogenous leukemia) TTC-1240 (Rhabdoid tumor of the kidney) SK-BR-3 (breast adenocarcinoma)
ASB for transcription factors
RFOX2_HUMAN VEZF1_HUMAN ZN148_HUMAN NELFE_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
RFOX2_HUMAN 3.42 -3.25 5.3·10-71.00 1.00 n/a n/a
VEZF1_HUMAN 2.52 -2.00 7.2·10-41.00 1.17 n/a No Hit
ZN148_HUMAN 2.88 -1.23 2.4·10-31.00 1.25 n/a No Hit
NELFE_HUMAN 1.22 -0.64 4.2·10-31.00 1.50 n/a n/a
ARID2_HUMAN 1.66 -0.86 0.011.00 1.00 n/a n/a
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Motif analysis

TCF21_HUMAN Weak Concordant
TCF21_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Cells_EBV-transformed_lymphocytes,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Stomach,  Testis,  Thyroid,  Vagina,  Whole_Blood

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