rs981947 chr2:71130580 G>C

Sequence
ggaactttcggctctgaaatccaa[G/C]ttgcgctgggcgcatctttgccgc
ASB in cell types
HepG2 (hepatoblastoma) GM12878 (female B-cells lymphoblastoid cell line) MDM(monocyte derived macrophages) MDA-MB-231 (breast adenocarcinoma)
ASB for transcription factors
TYY1_HUMAN FOXK2_HUMAN TF65_HUMAN IRF5_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) 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
TYY1_HUMAN 2.71 0.28 1.7·10-70.81 1.43 n/a No Hit
FOXK2_HUMAN 1.59 n/a 1.8·10-31.00 1.50 n/a No Hit
TF65_HUMAN 3.13 -0.53 6.9·10-31.00 2.00 n/a No Hit
IRF5_HUMAN 2.47 n/a 7.0·10-31.00 1.00 n/a No Hit
GABPA_HUMAN 1.25 -1.60 9.2·10-31.00 1.67 2.83 Discordant
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Motif analysis

GABPA_HUMAN Discordant
GABPA_HUMAN pic

Genetic associations

GRASP college completion,  hdl cholesterol,  rheumatoid arthritis,  years of education
GTEx eQTL Artery_Aorta,  Artery_Tibial,  Cells_Cultured_fibroblasts,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Testis,  Thyroid,  Whole_Blood

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