rs6488590 chr12:13135912 G>C

Sequence
agctcctccgggcacccacgcctc[G/C]ctgcggactggctgaggagtgact
ASB in cell types
thyroid gland foreskin keratinocyte HCT-116 (colon carcinoma) epithelial cell of prostate
ASB for transcription factors
CTCF_HUMAN RAD21_HUMAN ESR1_HUMAN SMC1A_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) 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 -1.83 2.82 1.001.7·10-24 1.50 3.60 Concordant
RAD21_HUMAN -0.14 2.77 1.005.6·10-5 1.17 n/a n/a
ESR1_HUMAN 0.49 2.21 0.444.0·10-3 1.94 n/a No Hit
SMC1A_HUMAN -1.49 1.57 1.000.02 1.67 n/a n/a
STAG2_HUMAN -2.02 2.46 1.000.03 1.00 n/a n/a
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Motif analysis

CTCF_HUMAN Concordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous Esophagus_Mucosa Pancreas Skin_Not_Sun_Exposed_Suprapubic Thyroid

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