rs62154845 chr2:96601907 G>A

Sequence
ctcctccccagctgggtcatctat[G/A]ccctatcagtcaatctgaaaggca
ASB in cell types
K562 (myelogenous leukemia) liver breast tumor CyT49-derived endodermal cells
ASB for transcription factors
ESR1_HUMAN RXRA_HUMAN PDX1_HUMAN PRD10_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) 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
ESR1_HUMAN 3.17 n/a 9.2·10-41.00 2.00 2.32 Discordant
RXRA_HUMAN 2.46 0.26 6.7·10-31.00 1.00 -1.93 Weak Concordant
PDX1_HUMAN -2.66 2.57 1.008.1·10-3 1.00 n/a No Hit
PRD10_HUMAN 2.71 -1.91 0.031.00 2.00 n/a n/a
SP1_HUMAN 2.03 -0.20 0.031.00 1.00 n/a No Hit
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Motif analysis

ESR1_HUMAN Discordant
ESR1_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Brain_Cerebellum,  Brain_Cortex,  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,  Muscle_Skeletal,  Nerve_Tibial,  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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