rs12248205 chr10:71746757 C>A

Sequence
cacgtgaattgcagccaaccgata[C/A]tactattccagataagaagccctg
ASB in cell types
K562 (myelogenous leukemia) CD34+ hematopoietic stem cells-derived proerythroblasts
ASB for transcription factors
GATA1_HUMAN NCOR1_HUMAN HDAC1_HUMAN SMCA4_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (C) 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
GATA1_HUMAN -0.35 3.92 1.001.1·10-9 1.50 0.00 Weak Discordant
NCOR1_HUMAN -0.23 2.34 1.002.0·10-4 1.00 n/a n/a
HDAC1_HUMAN -0.19 1.57 1.001.5·10-3 1.00 n/a n/a
SMCA4_HUMAN -1.41 1.92 1.004.6·10-3 1.00 n/a n/a
HES1_HUMAN -2.06 2.46 1.008.3·10-3 1.00 n/a No Hit
Items per page:
1 – 5 of 11

Motif analysis

GATA1_HUMAN Weak Discordant
GATA1_HUMAN pic

Genetic associations

GRASP abnormal involuntary movement scale,  eye color,  ldl cholesterol,  neuroticism,  obesity with early age of onset (age >2),  total cholesterol,  urinary albumin-to-creatinine ratio
GTEx eQTL Heart_Left_Ventricle,  Pancreas

Download