rs404724 chr19:11771704 G>A

Sequence
gttatgcctggacagggccaccag[G/A]gggctccttggtctagcagtgacg
ASB in cell types
bipolar neuron GM12890 (Lymphoblastoid Cell Lines) SK-N-SH (neuroblastoma) IPSC-derived bipolar neuron
ASB for transcription factors
CTCF_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 2.39 -0.62 4.1·10-191.00 1.08 -1.18 Weak Concordant
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Motif analysis

CTCF_HUMAN Weak Concordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Cells_Cultured_fibroblasts,  Cells_EBV-transformed_lymphocytes,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Mucosa,  Nerve_Tibial,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Testis,  Thyroid

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