rs10193485 chr2:102473114 T>C

Sequence
gggtgttgtattgcaggtgcccac[T/C]aggtgtcagcagtgtgacctccag
ASB in cell types
A549 (lung carcinoma) CD34+ stem cells-derived erythroblasts RWPE1 (prostate epithelial cells) neutrophils
ASB for transcription factors
CTCF_HUMAN SMC3_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
CTCF_HUMAN 1.21 0.61 3.1·10-151.00 1.47 0.25 Weak Discordant
SMC3_HUMAN 0.34 1.72 1.006.9·10-3 1.91 n/a n/a
RAD21_HUMAN 0.40 1.12 1.000.01 1.83 n/a n/a
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Motif analysis

CTCF_HUMAN Weak Discordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Breast_Mammary_Tissue,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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