rs59112743 chr6:15691547 G>A

Sequence
gctcctggcgctgagctcctcact[G/A]gagagggtagggagagtctaccgt
ASB in cell types
adult erythroblasts K562 (myelogenous leukemia) erythroid cells GM12890 (Lymphoblastoid Cell Lines)
ASB for transcription factors
KDM6A_HUMAN STAG1_HUMAN ANDR_HUMAN REST_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
KDM6A_HUMAN 2.56 n/a 6.2·10-71.00 2.00 n/a n/a
STAG1_HUMAN 0.66 0.58 1.002.2·10-3 1.00 n/a n/a
ANDR_HUMAN 2.13 -0.34 0.021.00 2.00 n/a No Hit
REST_HUMAN 0.82 n/a 0.031.00 3.00 -1.61 Weak Concordant
CTCF_HUMAN 1.26 0.44 0.031.00 1.38 n/a No Hit
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Motif analysis

REST_HUMAN Weak Concordant
REST_HUMAN pic

Genetic associations

EMBL-EBI multiple keratinocyte cancers
GTEx eQTL Artery_Tibial Muscle_Skeletal Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Whole_Blood

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