rs12216125 chr6:25997230 C>T
- Sequence
ttatctagctgtaacttattttaa[C/T]gaatctctctttatcatctctttc
- ASB in cell types
- K562 (myelogenous leukemia)
- ASB for transcription factors
- ARI1B_HUMAN MTG16_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| ARI1B_HUMAN | 2.61 | n/a | 3.00 | n/a | n/a | |||
| MTG16_HUMAN | 2.74 | n/a | 3.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP advanced age-related macular degeneration (geographic atrophy), age at death with kuru exposure, bipolar disorder, diastolic blood pressure (dbp), hematocrit (hct), hemoglobin (hb), ldl cholesterol, mean corpuscular hemoglobin (mch), mean corpuscular hemoglobin concentration (mchc), mean corpuscular volume (mcv), schizophrenia, serum creatinine, serum urate, systolic blood pressure (sbp), total cholesterol, transferrin saturation, urinary albumin-to-creatinine ratio, waist hip ratio
PheWAS abnormal function study of cardiovascular system, abnormal tumor markers, elevated cea or ca 125, acne, acute osteomyelitis, adverse effects of hormones and synthetic substitutes, allergic conjunctivitis, allergic reaction to food, anaphylactic shock nos, angiodysplasia of intestine, benign neoplasm of other parts of digestive system, cancer of connective tissue, cellulitis and abscess of arm, chronic hepatitis, chronic kidney disease, stage i or ii, colles fracture, concussion, congenital anomalies of lower limb, including pelvic girdle, congenital anomalies of urinary system, conjunctivitis, noninfectious, cystoid macular degeneration of retina, dementias, dermatomyositis and polymyositis, digestive congenital anomalies, diseases of sebaceous glands, disorders of conjunctiva, disorders of external ear, disorders of other cranial nerves, disorders of refraction and accommodation, disorders of sweat glands, diverticulitis, eosinophilia, gastritis and duodenitis, gastritis and duodenitis, nos, generalized hyperhidrosis, genitourinary congenital anomalies, gestational diabetes, glaucoma, hyperbilirubinemia, hypermetropia, infertility, female, inflammation of eyelids, inflammation of the eye, iron metabolism disorder, loss of teeth or edentulism, malignant neoplasm of ovary, mild cognitive impairment, myasthenia gravis, myoclonus, nonsenile cataract, osteoarthrosis, localized, primary, other disorders of intestine, other disorders of peritoneum, other hypertensive complications, pancytopenia, paroxysmal ventricular tachycardia, pelvic peritoneal adhesions, female (postoperative) (postinfection), peptic ulcer, persistent mental disorders due to other conditions, pneumonitis due to inhalation of food or vomitus, pseudoexfoliation glaucoma, psoriasis, psoriasis & related disorders, psoriasis vulgaris, rash and other nonspecific skin eruption, retinoschisis and retinal cysts, sebaceous cyst, somatoform disorder, stricture and stenosis of esophagus, suicidal ideation or attempt, temporomandibular joint disorder nos, type 1 diabetic ketoacidosis, unspecified monoarthritis
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood