rs11717719 chr3:126528952 C>T
- Sequence
ggcaggacagaggccctcggaggc[C/T]acgtgggaacctatgcctgctggc
- ASB in cell types
- HepG2 (hepatoblastoma) pancreas adrenal gland iPSC-derived cardiomyocytes
- ASB for transcription factors
- CTCF_HUMAN MAX_HUMAN DMAP1_HUMAN AHR_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 2.75 | 0.69 | 1.53 | -0.87 | Weak Concordant | |||
| MAX_HUMAN | 3.25 | -0.23 | 1.17 | -4.38 | Concordant | |||
| DMAP1_HUMAN | 3.15 | -3.29 | 1.00 | n/a | n/a | |||
| AHR_HUMAN | 2.42 | -2.26 | 1.00 | n/a | No Hit | |||
| SP130_HUMAN | 2.03 | -1.76 | 1.00 | n/a | n/a |
Items per page:
1 – 5 of 7
Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, Breast_Mammary_Tissue, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Minor_Salivary_Gland, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood