rs34255732 chr15:90249708 C>A

Sequence
gacgcccagaaacgcccagggaga[C/A]ctggagccgggggaagaggggaca
ASB in cell types
HEK293 (embryonic kidney) adrenal gland BEAS-2B (bronchial epithelium)
ASB for transcription factors
CTCF_HUMAN RFX1_HUMAN ZXDB_HUMAN GCR_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
CTCF_HUMAN 0.61 1.09 1.009.2·10-4 1.12 n/a No Hit
RFX1_HUMAN 0.95 -2.15 0.011.00 3.50 -3.97 Concordant
ZXDB_HUMAN n/a 2.03 1.000.01 2.00 n/a n/a
GCR_HUMAN 0.17 1.08 1.000.03 1.00 n/a No Hit
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Motif analysis

RFX1_HUMAN Concordant
RFX1_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,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hypothalamus,  Brain_Spinal_cord_cervical_c-1,  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,  Pancreas,  Pituitary,  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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