rs55769230 chr19:52735112 G>A

Sequence
aagtgggaggtaggcggggcctgg[G/A]cgaggtaggggcggggcgcgaggc
ASB in cell types
neural cell GM12891 (male B- cells lymphoblastoid cell line) adrenal gland esophagus squamous epithelium
ASB for transcription factors
CTCF_HUMAN RAD21_HUMAN STAG1_HUMAN STAT1_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
CTCF_HUMAN 2.36 0.39 1.5·10-561.00 1.83 n/a No Hit
RAD21_HUMAN 2.36 -0.32 3.1·10-61.00 1.38 n/a n/a
STAG1_HUMAN 2.80 -1.48 1.5·10-51.00 2.89 n/a n/a
STAT1_HUMAN 2.34 n/a 2.5·10-41.00 2.50 n/a No Hit
SMC3_HUMAN 1.61 -0.11 1.9·10-31.00 1.40 n/a n/a
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Motif analysis

No data available

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Artery_Tibial,  Brain_Frontal_Cortex_BA9,  Brain_Nucleus_accumbens_basal_ganglia,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Thyroid

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