rs740530 chr7:7182563 C>T
- Sequence
gcgccaggagacttcgggtggcgg[C/T]tgcgccataggcgggccacggcct
- ASB in cell types
- K562 (myelogenous leukemia) HepG2 (hepatoblastoma) GM12878 (female B-cells) HEK293 (embryonic kidney)
- ASB for transcription factors
- CREB1_HUMAN CTCF_HUMAN CREM_HUMAN MNT_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| CREB1_HUMAN | -0.18 | 1.12 | 1.54 | n/a | No Hit | |||
| CTCF_HUMAN | 1.12 | -0.06 | 2.06 | 0.11 | Weak Discordant | |||
| CREM_HUMAN | -1.14 | 1.81 | 1.39 | n/a | No Hit | |||
| MNT_HUMAN | -0.48 | 1.37 | 1.73 | n/a | n/a | |||
| JUN_HUMAN | 0.95 | -0.07 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood