rs12624452 chr20:38926138 G>T

Sequence
gccgcgcagcggggcgaccggcag[G/T]gggcgcgctgggatggccaggagc
ASB in cell types
HCT-116 (colon carcinoma) glioblastoma patient-derived cell model gastroesophageal sphincter WA09 (embryonic stem cells)
ASB for transcription factors
CTCF_HUMAN RAD21_HUMAN SNAI2_HUMAN LIN9_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (G) ASB
color scale alt
-log10 FDR of Alt (T) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CTCF_HUMAN 2.06 -0.04 4.7·10-841.00 2.36 -4.45 Concordant
RAD21_HUMAN 1.90 0.22 9.2·10-121.00 1.27 n/a n/a
SNAI2_HUMAN 3.55 n/a 2.7·10-71.00 1.50 -3.79 Concordant
LIN9_HUMAN 2.52 -2.32 1.1·10-41.00 1.00 n/a n/a
MBL2_HUMAN 1.79 -0.62 8.3·10-41.00 1.00 n/a n/a
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Motif analysis

SNAI2_HUMAN Concordant
SNAI2_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Artery_Aorta,  Artery_Tibial,  Brain_Cortex,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Liver,  Lung,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Testis,  Thyroid,  Whole_Blood

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