rs8134369 chr21:42107916 T>C

Sequence
cccttgtcccagctgcggggccag[T/C]gggagcagtgtgcagcgtcctgcc
ASB in cell types
GM02630 (Fanconi anemi) GM12878 (female B-cells lymphoblastoid cell line) upper lobe of left lung CUTLL1 (T-cell lymphoblastic lymphoma 1)
ASB for transcription factors
STAG1_HUMAN IKZF1_HUMAN TRI22_HUMAN RAD21_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
STAG1_HUMAN 0.24 4.62 1.002.1·10-11 1.75 n/a n/a
IKZF1_HUMAN 2.39 0.20 1.4·10-41.00 1.40 n/a n/a
TRI22_HUMAN 2.90 n/a 3.4·10-31.00 1.00 n/a n/a
RAD21_HUMAN 0.25 2.05 1.009.8·10-3 1.56 n/a n/a
IKZF2_HUMAN 1.60 -0.90 0.041.00 1.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GTEx eQTL Adipose_Visceral_Omentum Adrenal_Gland Brain_Anterior_cingulate_cortex_BA24 Brain_Caudate_basal_ganglia Brain_Cerebellum Brain_Cortex Brain_Frontal_Cortex_BA9 Brain_Hippocampus Brain_Nucleus_accumbens_basal_ganglia Brain_Putamen_basal_ganglia Brain_Substantia_nigra Cells_EBV-transformed_lymphocytes Colon_Transverse Esophagus_Gastroesophageal_Junction Heart_Left_Ventricle Lung Pituitary Prostate Skin_Not_Sun_Exposed_Suprapubic Small_Intestine_Terminal_Ileum Spleen Stomach Testis Thyroid Uterus Whole_Blood

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