rs11123513 chr2:119290974 A>T

Sequence
acgccaaggctgacttacaggggg[A/T]caaacctattgaacacagtcctta
ASB in cell types
A549 (lung carcinoma) GM12890 (Lymphoblastoid Cell Lines) gastroesophageal sphincter foreskin keratinocyte
ASB for transcription factors
CTCF_HUMAN SMC3_HUMAN RAD21_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (A) 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
CTCF_HUMAN 1.96 0.33 4.6·10-521.00 1.59 n/a No Hit
SMC3_HUMAN 1.81 -0.39 5.1·10-71.00 1.83 n/a n/a
RAD21_HUMAN 1.57 0.06 4.2·10-51.00 1.88 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP birth weight,  fasting insulin,  urinary albumin-to-creatinine ratio
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Brain_Cerebellum,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Esophagus_Gastroesophageal_Junction,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Pancreas,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Testis

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