rs2244247 chr17:29783156 G>A

Sequence
tatgctgagtcagttcctgagtgg[G/A]ggccacagaactagttggcaggtc
ASB in cell types
K562 (myelogenous leukemia)
ASB for transcription factors
ZN316_HUMAN EMSY_HUMAN MAFG_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
ZN316_HUMAN n/a 1.59 1.001.9·10-8 2.00 n/a n/a
EMSY_HUMAN n/a 0.94 1.000.02 2.00 n/a n/a
MAFG_HUMAN n/a 2.20 1.000.02 2.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

GRASP diastolic blood pressure (dbp) height infant head circumference microalbuminuria systolic blood pressure (sbp)
GTEx eQTL Adipose_Subcutaneous 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_Hypothalamus Brain_Nucleus_accumbens_basal_ganglia Cells_Cultured_fibroblasts Colon_Sigmoid Colon_Transverse Esophagus_Gastroesophageal_Junction Esophagus_Muscularis Heart_Atrial_Appendage Lung Minor_Salivary_Gland Nerve_Tibial Pituitary Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Small_Intestine_Terminal_Ileum Spleen Stomach Testis Thyroid Whole_Blood

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