rs28325 chr5:179870733 A>C

Sequence
agtccttggcagcctgcagggggc[A/C]gagctggtctgctggccccagaga
ASB in cell types
IPSC-derived bipolar neuron GM12878 (female B-cells lymphoblastoid cell line) neural progenitors GM23338
ASB for transcription factors
CTCF_HUMAN STAG1_HUMAN RAD21_HUMAN PRDM9_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) 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 2.82 0.98 1.2·10-211.00 1.32 -3.83 Concordant
STAG1_HUMAN 3.39 -3.73 1.1·10-51.00 1.00 n/a n/a
RAD21_HUMAN 1.22 -2.90 0.021.00 1.50 n/a n/a
PRDM9_HUMAN 2.56 -2.18 0.021.00 1.00 n/a n/a
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Motif analysis

CTCF_HUMAN Concordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Artery_Tibial Brain_Hypothalamus Muscle_Skeletal Nerve_Tibial Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Testis Thyroid Whole_Blood

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