rs7547496 chr1:26363990 T>C

Sequence
ctttgctaacgcactgagatgcgc[T/C]ccctgggcgccccctgctgggcga
ASB in cell types
GM19239 (male B-cells lymphoblastoid cell line) GBM39 (Human brain tumor) 2588 (Lymphoblastoid Cell Lines) K562 (myelogenous leukemia)
ASB for transcription factors
STAG1_HUMAN CTCF_HUMAN ILF3_HUMAN KDM6A_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

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
STAG1_HUMAN 1.19 -0.55 1.6·10-221.00 1.00 n/a n/a
CTCF_HUMAN 0.86 0.70 1.3·10-51.00 1.33 3.17 Discordant
ILF3_HUMAN 1.68 -1.40 0.011.00 1.00 n/a n/a
KDM6A_HUMAN 0.02 1.73 0.870.03 1.75 n/a n/a
JUN_HUMAN 1.33 0.15 0.041.00 1.22 n/a No Hit
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Motif analysis

CTCF_HUMAN Discordant
CTCF_HUMAN pic

Genetic associations

GRASP birth weight,  height,  transmission distortion,  waist hip ratio
GTEx eQTL Artery_Tibial,  Brain_Amygdala,  Brain_Cortex,  Brain_Nucleus_accumbens_basal_ganglia,  Cells_Cultured_fibroblasts,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Lung,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Testis,  Thyroid,  Whole_Blood

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