rs807019 - ADASTRA v1.6.10

Sequence: acaggcacagagacagagcatgcc[T/C]tggtggtcagagtgagtcattcat
ASB in cell types: MCF7 (Invasive ductal breast carcinoma) foreskin keratinocyte SH-SY5Y (neuroblastoma) HepG2 (hepatoblastoma)
ASB for transcription factors: CTCF_HUMAN RAD21_HUMAN CREB1_HUMAN ZN444_HUMAN
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Transcription factors

Cell types

Uniprot ID	Effect size Ref	Effect size Alt	FDR Ref	FDR Alt	Mean BAD	Motif fold change	Motif concordance
CTCF_HUMAN	0.06	1.60	1.00	1.2·10^-103	1.61	4.36	Concordant
RAD21_HUMAN	-0.81	2.14	1.00	4.5·10^-12	1.36	n/a	n/a
CREB1_HUMAN	-1.00	1.37	1.00	1.3·10^-4	1.33	n/a	No Hit
ZN444_HUMAN	-2.09	2.32	1.00	2.3·10^-3	1.33	n/a	n/a

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CTCF_HUMAN

Concordant

GRASP cystatin c in serum, eye color, irritible bowel syndrome, serum creatinine, spine bone mineral density (bmd)

GTEx eQTL Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Lung, Skin_Sun_Exposed_Lower_leg