rs12999065 chr2:181573337 C>G

Sequence
cagtgcttagttttgacctaacca[C/G]caggggtcagagtcagaacgaaaa
ASB in cell types
GM12892 (female B-cells lymphoblastoid cell line) hepatocytes pancreas THP-1 (acute monocytic leukemia)
ASB for transcription factors
CTCF_HUMAN RAD21_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CTCF_HUMAN 1.04 0.51 2.6·10-101.00 1.16 -0.98 Weak Concordant
RAD21_HUMAN 1.15 0.25 1.1·10-41.00 1.08 n/a n/a
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Motif analysis

CTCF_HUMAN Weak Concordant
CTCF_HUMAN pic

Genetic associations

GRASP aortic valve calcium ldl cholesterol change with statins refractive error
GTEx eQTL Skin_Sun_Exposed_Lower_leg

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