rs9519 chr1:43172261 T>C
- Sequence
tggctccacgtgccaccgaatcgc[T/C]ccagcgccagcaactcacagctac
- ASB in cell types
- HEK293 (embryonic kidney) MCF7 (Invasive ductal breast carcinoma) CD14+ monocytes K562 (myelogenous leukemia)
- ASB for transcription factors
- STAT1_HUMAN BACH1_HUMAN ZN395_HUMAN ESR1_HUMAN
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-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (C) ASB
Details
Transcription factors
Cell types
Uniprot ID | Effect size Ref | Effect size Alt | FDR Ref | FDR Alt | Mean BAD | Motif fold change | Motif concordance | |
|---|---|---|---|---|---|---|---|---|
| STAT1_HUMAN | 2.13 | 0.58 | 1.75 | n/a | No Hit | |||
| BACH1_HUMAN | 2.51 | -2.35 | 1.00 | 1.18 | Weak Discordant | |||
| ZN395_HUMAN | 1.57 | -1.51 | 1.00 | n/a | n/a | |||
| ESR1_HUMAN | 1.43 | 0.73 | 1.80 | n/a | No Hit | |||
| BRD4_HUMAN | 2.09 | 0.90 | 1.88 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Vagina, Whole_Blood