rs4390710 chr19:39440391 T>C

Sequence
acagtactatattcacaggctgga[T/C]attgtagatttgcatatttgccaa
ASB in cell types
A549 (lung carcinoma) K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line) HEK293 (embryonic kidney)
ASB for transcription factors
CTCF_HUMAN RAD21_HUMAN SMC3_HUMAN IKZF2_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
CTCF_HUMAN -0.01 2.04 1.002.1·10-107 1.78 n/a No Hit
RAD21_HUMAN -0.62 2.06 1.008.9·10-13 1.69 n/a n/a
SMC3_HUMAN 0.01 2.03 1.001.9·10-5 1.89 n/a n/a
IKZF2_HUMAN -1.96 2.44 1.003.4·10-4 1.00 n/a n/a
REST_HUMAN n/a 2.88 1.004.5·10-4 2.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

GRASP hdl cholesterol,  kawasaki disease
GTEx eQTL Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Nucleus_accumbens_basal_ganglia,  Cells_Cultured_fibroblasts,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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