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
Items per page:
1 – 5 of 6

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

Download