rs12752674 chr1:53541939 T>C

Sequence
cacaggtctgtaatccacagctcc[T/C]cctgtggccagtgatgatggcacc
ASB in cell types
GM02630 (Fanconi anemi) K562 (myelogenous leukemia) neural progenitors HeLa (cervical adenocarcinoma)
ASB for transcription factors
CTCF_HUMAN MEIS2_HUMAN ARI1A_HUMAN

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 0.03 2.40 1.002.0·10-47 1.63 2.27 Concordant
MEIS2_HUMAN -2.92 2.81 1.002.8·10-3 1.00 n/a No Hit
ARI1A_HUMAN n/a 2.26 1.000.02 2.00 n/a n/a
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Motif analysis

CTCF_HUMAN Concordant
CTCF_HUMAN pic

Genetic associations

GRASP advanced age-related macular degeneration (geographic atrophy) diastolic blood pressure (dbp) mitral annular calcium total cholesterol
GTEx eQTL Adipose_Subcutaneous Skin_Sun_Exposed_Lower_leg

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