rs3750965 chr11:69072692 A>G
- Sequence
aggtccagctggacagctcccaca[A/G]acaggccatgatggaggtacccgc
- ASB in cell types
- K562 (myelogenous leukemia)
- ASB for transcription factors
- REST_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| REST_HUMAN | -0.28 | 2.38 | 1.67 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GRASP cystatin c in serum, eye color, hair color, hair color (blond versus brown), hair color (blond verus brown), hdl cholesterol, height, longstanding arthritis, triglycerides
PheWAS abnormal findings on mammogram or breast exam, abnormal kidney function, abnormal mammogram, anal and rectal polyp, anemia of chronic disease, biliary cirrhosis, blister, breast cancer, breast cancer, including in situ, cancer of the lower gi tract, carditis, chondrocalcinosis, chronic ulcer of unspecified site, circulatory disease nec, conduct disorders, conductive hearing loss, crystal arthropathies, dermatomyositis and polymyositis, diffuse diseases of connective tissue, disturbances of amino-acid transport, disturbances of sulphur-bearing amino-acid metabolism, diverticulum of esophagus, acquired, e. coli, eating disorder, eustachian tube disorders, fracture of hand or wrist, fuchs dystrophy, h. pylori, hallux rigidus, hemangioma and lymphangioma, any site, hemorrhage or hematoma complicating a procedure, history of diseases of digestive system, ileostomy status, inflammatory disease of cervix, vagina, and vulva, inflammatory diseases of female pelvic organs, keloid scar, lump or mass in breast, mammographic microcalcification, mental retardation, mitral valve stenosis and/or aortic valve stenosis, mixed hyperlipidemia, muscle weakness, mycoses, nephritis & nephropathy, nonallopathic lesions nec, nonrheumatic aortic valve disorders, open wound of ear, other disorders of back, other disorders of urethra and urinary tract, other hypertrophic and atrophic conditions of skin, other specified intestinal malabsorption, otitis media, peripheral or central vertigo, peritonitis and retroperitoneal infections, personality disorders, phobia, poisoning by other anti-infectives, prostate cancer, pyogenic arthritis, renal colic, schizoid personality disorder, secondary malignancy of bone, spondylosis without myelopathy, stiffness of joint, stricture/obstruction of ureter, subjective visual disturbances, sulfonamides, suppurative and unspecified otitis media, thyrotoxicosis, ulcerative colitis, vaginitis and vulvovaginitis, vascular insufficiency of intestine
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Breast_Mammary_Tissue, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Thyroid