rs571269735 chr19:45179662 C>T

Sequence
ggagagccaggcgcggctggacca[C/T]gacgtggcggccgccgtgagcggt
ASB in cell types
K562 (myelogenous leukemia)
ASB for transcription factors
EGR1_HUMAN RFOX2_HUMAN NCOR1_HUMAN ATF7_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 (T) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
EGR1_HUMAN 0.07 2.94 0.784.2·10-7 1.88 n/a No Hit
RFOX2_HUMAN -2.32 3.11 1.001.7·10-4 2.00 n/a n/a
NCOR1_HUMAN n/a 3.60 1.002.5·10-4 2.00 n/a n/a
ATF7_HUMAN -2.15 2.95 1.000.01 2.00 n/a No Hit
MTA3_HUMAN -5.21 3.14 1.000.02 2.00 n/a n/a
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Motif analysis

MNT_HUMAN Weak Discordant
MNT_HUMAN pic

Genetic associations

ClinVar hermansky-pudlak syndrome
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Brain_Cortex,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Esophagus_Gastroesophageal_Junction,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Liver,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  Pituitary,  Prostate,  Stomach,  Thyroid

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