rs117138955 chr21:36990231 T>C

Sequence
tccctgccgcgccgcgctgcgccc[T/C]ctcgtggcccgcctggtggtgcaa
ASB in cell types
foreskin keratinocyte sigmoid colon lymphoblastoid cells OCI-LY7 (diffuse large B-cell lymphoma)
ASB for transcription factors
CTCF_HUMAN GCR_HUMAN ANDR_HUMAN ESR1_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
CTCF_HUMAN 1.36 0.47 4.9·10-241.00 1.36 1.27 Weak Discordant
GCR_HUMAN 1.03 -0.18 4.7·10-41.00 1.00 n/a No Hit
ANDR_HUMAN 1.83 -0.45 1.4·10-31.00 1.50 n/a No Hit
ESR1_HUMAN 2.31 -0.91 7.3·10-31.00 2.50 n/a No Hit
MED26_HUMAN 2.01 -0.93 7.4·10-31.00 1.00 n/a n/a
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Motif analysis

CTCF_HUMAN Weak Discordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Brain_Cortex,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Transverse,  Esophagus_Mucosa,  Esophagus_Muscularis,  Nerve_Tibial,  Pancreas,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Vagina,  Whole_Blood

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