rs12612238 chr2:112667055 G>A

Sequence
tctgttactcagttcactccagat[G/A]agaaagcttttggttgtgttgcct
ASB in cell types
K562 (myelogenous leukemia) CD34+ hematopoietic stem cells-derived proerythroblasts
ASB for transcription factors
NFIC_HUMAN HTF4_HUMAN HDAC2_HUMAN KDM1A_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

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
NFIC_HUMAN n/a 3.82 1.008.2·10-8 2.00 n/a No Hit
HTF4_HUMAN n/a 3.58 1.006.0·10-7 2.00 n/a No Hit
HDAC2_HUMAN -4.97 3.32 1.003.4·10-6 2.00 n/a n/a
KDM1A_HUMAN n/a 2.85 1.004.2·10-6 2.00 n/a n/a
REQU_HUMAN n/a 4.08 1.006.2·10-6 2.00 n/a n/a
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Motif analysis

GATA1_HUMAN Concordant
GATA1_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Breast_Mammary_Tissue,  Colon_Transverse,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Skin_Sun_Exposed_Lower_leg,  Thyroid,  Whole_Blood

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