GWAS652782_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS652782_H (systolic blood pressure QTL GWAS652782 (human)) Homo sapiens

Symbol: GWAS652782_H
Name: systolic blood pressure QTL GWAS652782 (human)
RGD ID: 407003806
Trait: systolic blood pressure
Measurement Type: systolic blood pressure   (CMO:0000004)    
LOD Score: Not Available
P Value: 4.0E-9
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38111,802,721 - 11,802,722RGD_MAPPER_PIPELINEGRCh38
GRCh37111,862,778 - 11,862,779RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS652782_HHumansystolic blood pressure  IAGPrs17367504405850206Based on the EFO term IDGWAS_CATALOGPMID:27841878

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS652782_HHumansystolic blood pressure  IAGPrs17367504405850206 GWAS_CATALOGPMID:27841878
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

References

References - curated
# Reference Title Reference Citation
1. RGD GWAS Catalog Import Pipeline RGD pipeline to import data from GWAS Catalog and create human variant and QTL records

Region

Genes in Region
The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD IDSymbolNameChrStartStopSpecies
733483MTHFRmethylenetetrahydrofolate reductase11178572311805964Human
155633489LOC127267495H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11862804-1186370011180269111803643Human

Position Markers

Peak: (rs17367504)
Human AssemblyChrPosition (strand)Source
GRCh38111,802,721 - 11,802,722RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
407027202GWAS676178_Hmean arterial pressure QTL GWAS676178 (human)2e-16mean arterial pressuremean arterial blood pressure (CMO:0000009)11180272111802722Human
407090245GWAS739221_Hsystolic blood pressure QTL GWAS739221 (human)8e-17systolic blood pressuresystolic blood pressure (CMO:0000004)11180272111802722Human
407000389GWAS649365_Hmean platelet volume QTL GWAS649365 (human)2e-14mean platelet volumemean platelet volume (CMO:0001348)11180272111802722Human
407020171GWAS669147_Hsystolic blood pressure QTL GWAS669147 (human)2e-13systolic blood pressuresystolic blood pressure (CMO:0000004)11180272111802722Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
407001996GWAS650972_Hdiastolic blood pressure QTL GWAS650972 (human)0.000002diastolic blood pressurediastolic blood pressure (CMO:0000005)11180272111802722Human
407001997GWAS650973_Hdiastolic blood pressure QTL GWAS650973 (human)0.000007diastolic blood pressurediastolic blood pressure (CMO:0000005)11180272111802722Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407078930GWAS727906_Hmean arterial pressure QTL GWAS727906 (human)9e-21mean arterial pressuremean arterial blood pressure (CMO:0000009)11180272111802722Human
406925459GWAS574435_Hhypertension QTL GWAS574435 (human)4e-34hypertension11180272111802722Human
407000472GWAS649448_Hsmoking status measurement, diastolic blood pressure QTL GWAS649448 (human)9e-40smoking status measurement, diastolic blood pressurediastolic blood pressure (CMO:0000005)11180272111802722Human
407018073GWAS667049_Hmean platelet volume QTL GWAS667049 (human)7e-16mean platelet volumemean platelet volume (CMO:0001348)11180272111802722Human
407002585GWAS651561_Hpulse pressure measurement QTL GWAS651561 (human)0.000008pulse pressure measurementpulse pressure (CMO:0000292)11180272111802722Human
407003806GWAS652782_Hsystolic blood pressure QTL GWAS652782 (human)4e-09systolic blood pressuresystolic blood pressure (CMO:0000004)11180272111802722Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
406910622GWAS559598_Hsystolic blood pressure QTL GWAS559598 (human)1e-16systolic blood pressuresystolic blood pressure (CMO:0000004)11180272111802722Human
407003805GWAS652781_Hsystolic blood pressure QTL GWAS652781 (human)2e-09systolic blood pressuresystolic blood pressure (CMO:0000004)11180272111802722Human
407001763GWAS650739_Hpulse pressure measurement QTL GWAS650739 (human)4e-19pulse pressure measurementpulse pressure (CMO:0000292)11180272111802722Human
406910050GWAS559026_Hdiastolic blood pressure QTL GWAS559026 (human)3e-18diastolic blood pressurediastolic blood pressure (CMO:0000005)11180272111802722Human
407001252GWAS650228_Hsystolic blood pressure QTL GWAS650228 (human)1e-40systolic blood pressuresystolic blood pressure (CMO:0000004)11180272111802722Human
407073188GWAS722164_Hpreeclampsia QTL GWAS722164 (human)5e-10preeclampsia11180272111802722Human
407000170GWAS649146_Hdiastolic blood pressure QTL GWAS649146 (human)5e-32diastolic blood pressurediastolic blood pressure (CMO:0000005)11180272111802722Human
406920557GWAS569533_Hdiastolic blood pressure QTL GWAS569533 (human)3e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)11180272111802722Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
406895469GWAS544445_Hsmoking status measurement, systolic blood pressure QTL GWAS544445 (human)5e-43smoking status measurement, systolic blood pressuresystolic blood pressure (CMO:0000004)11180272111802722Human
407000687GWAS649663_Hleft ventricular structural measurement QTL GWAS649663 (human)3e-08left ventricular structural measurementheart left ventricle morphological measurement (CMO:0000951)11180272111802722Human
406989101GWAS638077_Hbirth weight, parental genotype effect measurement QTL GWAS638077 (human)3e-13birth weight, parental genotype effect measurementneonatal body weight (CMO:0002079)11180272111802722Human


Additional Information

GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog   
The highlighted row represents the current QTL
QTL GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG Peak Marker Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GWAS544445_H GCST006188 Systolic blood pressure (cigarette smoking interaction) 80,552 European ancestry individuals, 27,118 African individuals, 13,438 Asian individuals, 8,805 Hispanic individuals ? NR 5E-43 42.302 rs17367504 N/A smoking status measurement (EFO:0006527)
systolic blood pressure (EFO:0006335)
 PMID:29455858
GWAS559026_H GCST004777 Diastolic blood pressure 150,134 European ancestry individuals G 0.153 3E-18 17.523 rs17367504 0.526 diastolic blood pressure (EFO:0006336)
 PMID:28739976
GWAS559598_H GCST004776 Systolic blood pressure 150,134 European ancestry individuals G 0.153 1E-16 16 rs17367504 0.818 systolic blood pressure (EFO:0006335)
 PMID:28739976
GWAS569533_H GCST005772 Diastolic blood pressure up to 33,431 European ancestry individuals G 0.1469 3E-9 8.523 rs17367504 0.55987895 diastolic blood pressure (EFO:0006336)
 PMID:29615537
GWAS574435_H GCST009685 Hypertension 30,822 British ancestry normal blood pressure individuals, 25,242 British ancestry elevated blood pressure individuals, 50,461 British ancestry stage 1 hypertension individuals, 75,286 British ancestry stage 2 hypertension individuals, 3,754 British ancestry hypertension crisis individuals ? NR 4E-34 33.398 rs17367504 0.1006982 hypertension (EFO:0000537)
 PMID:31879980
GWAS638077_H GCST008363 Offspring birth weight 210,267 European ancestry individuals, 19,802 individuals G 0.166674 3E-13 12.523 rs17367504 0.029878 birth weight (EFO:0004344)
parental genotype effect measurement (EFO:0005939)
 PMID:31043758
GWAS649146_H GCST007094 Diastolic blood pressure 295,529 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 2,029 African British individuals, 7,701 East Asian ancestry individuals, 2,735 South Asian ancestry individuals, 1,979 mixed and unknown ancestry individuals A NR 5E-32 31.302 rs17367504 0.374 diastolic blood pressure (EFO:0006336)
 PMID:27841878
GWAS649365_H GCST90002349 Mean platelet volume 484,042 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals A 0.840078 2E-14 13.699 rs17367504 N/A mean platelet volume (EFO:0004584)
 PMID:32888493
GWAS649448_H GCST006187 Diastolic blood pressure (cigarette smoking interaction) 80,552 European ancestry individuals, 27,118 African individuals, 13,438 Asian individuals, 8,805 Hispanic individuals ? NR 9E-40 39.046 rs17367504 N/A smoking status measurement (EFO:0006527)
diastolic blood pressure (EFO:0006336)
 PMID:29455858
GWAS649663_H GCST90278512 Left ventricular end systole anterior wall thickness 41,581 European ancestry individuals G NR 3E-8 7.523 rs17367504 0.05 left ventricular structural measurement (EFO:0008205)
 PMID:38036550
GWAS650228_H GCST007099 Systolic blood pressure 295,529 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 2,029 African British individuals, 7,701 East Asian ancestry individuals, 2,735 South Asian ancestry individuals, 1,979 mixed and unknown ancestry individuals A NR 1E-40 40 rs17367504 0.695 systolic blood pressure (EFO:0006335)
 PMID:27841878
GWAS650739_H GCST007096 Pulse pressure 295,529 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 2,029 African British individuals, 7,701 East Asian ancestry individuals, 2,735 South Asian ancestry individuals, 1,979 mixed and unknown ancestry individuals A NR 4E-19 18.398 rs17367504 0.311 pulse pressure measurement (EFO:0005763)
 PMID:27841878
GWAS650972_H GCST007098 Diastolic blood pressure 80,792 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 7,243 East Asian ancestry individuals, 461 South Asian ancestry individuals A NR 0.000002 5.699 rs17367504 0.253 diastolic blood pressure (EFO:0006336)
 PMID:27841878
GWAS650973_H GCST007098 Diastolic blood pressure 80,792 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 7,243 East Asian ancestry individuals, 461 South Asian ancestry individuals A NR 0.000007 5.155 rs17367504 0.218 diastolic blood pressure (EFO:0006336)
 PMID:27841878
GWAS651561_H GCST007097 Pulse pressure 80,792 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 7,243 East Asian ancestry individuals, 461 South Asian ancestry individuals A NR 0.000008 5.097 rs17367504 0.221 pulse pressure measurement (EFO:0005763)
 PMID:27841878
GWAS652781_H GCST007095 Systolic blood pressure 80,792 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 7,243 East Asian ancestry individuals, 461 South Asian ancestry individuals A NR 2E-9 8.699 rs17367504 0.495 systolic blood pressure (EFO:0006335)
 PMID:27841878
GWAS652782_H GCST007095 Systolic blood pressure 80,792 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 7,243 East Asian ancestry individuals, 461 South Asian ancestry individuals A NR 4E-9 8.398 rs17367504 0.439 systolic blood pressure (EFO:0006335)
 PMID:27841878
GWAS667049_H GCST90002346 Mean platelet volume 460,935 European ancestry individuals A 0.838766 7E-16 15.155 rs17367504 0.020945 mean platelet volume (EFO:0004584)
 PMID:32888493
GWAS669147_H GCST000395 Systolic blood pressure 34,433 European ancestry individuals G 0.14 2E-13 12.699 rs17367504 0.85 systolic blood pressure (EFO:0006335)
 PMID:19430483
GWAS676178_H GCST001236 Blood pressure 74,064 European ancestry individuals G 0.17 2E-16 15.699 rs17367504 0.534 mean arterial pressure (EFO:0006340)
 PMID:21909110
GWAS722164_H GCST90271317 Gestational hypertension 844 Asian ancestry cases, 12,098 Asian ancestry controls, 38 African ancestry cases, 1,388 African ancestry controls, 35 Hispanic or Latin American cases, 2,436 Hispanic or Latin American controls, 8,044 European ancestry cases, 169,003 European ancestry controls A NR 5E-10 9.302 rs17367504 1.14 preeclampsia (EFO:0000668)
 PMID:37248299
GWAS727906_H GCST006231 Mean arterial pressure 120,473 European ancestry individuals, 21,503 African American individuals, 4,586 Hispanic individuals G 0.146671130760102 9E-21 20.046 rs17367504 0.5984334 mean arterial pressure (EFO:0006340)
 PMID:27618448
GWAS739221_H GCST006021 Systolic blood pressure up to 165,276 European ancestry individuals, up to 27,487 South Asian ancestry individuals A 0.8383 8E-17 16.097 rs17367504 0.0408 systolic blood pressure (EFO:0006335)
 PMID:27618447
Database Acc Id Source(s)
GWAS Catalog GCST007095 GWAS Catalog

RGD Curation Notes
Note Type Note Reference