rs12693579 chr2:190534707 T>C

Sequence
cgagccctaggggaccggctccgc[T/C]gcgaggagcggaagtggcgcgggg
ASB in cell types
macrophages form periferal blood uterus SEM (childhood B acute lymphoblastic leukemia) CD14+ monocytes
ASB for transcription factors
CTCF_HUMAN SPI1_HUMAN TIF1B_HUMAN OLIG2_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) 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
CTCF_HUMAN 0.48 1.75 1.003.3·10-12 1.10 n/a No Hit
SPI1_HUMAN 0.06 1.60 1.007.0·10-3 1.79 n/a No Hit
TIF1B_HUMAN n/a 2.82 1.000.03 2.00 n/a n/a
OLIG2_HUMAN 2.36 0.10 0.031.00 1.00 n/a No Hit
STAT1_HUMAN 0.26 2.49 0.640.04 1.67 n/a No Hit
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Motif analysis

No data available

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  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_Putamen_basal_ganglia,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Testis,  Thyroid,  Whole_Blood

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