COPD16_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: COPD16_H (Chronic obstructive pulmonary disease QTL 16 (human)) Homo sapiens

Symbol: COPD16_H
Name: Chronic obstructive pulmonary disease QTL 16 (human)
RGD ID: 1331643
Trait: Chronic airflow obstruction
Measurement Type: post-BD FEV1 minus pre-BD FEV1/pre-BD FEV1 x 100
LOD Score: 1.07
P Value: Not Available
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38349,380,651 - 75,380,651RGD_MAPPER_PIPELINEGRCh38
GRCh37349,418,084 - 198,022,430RGD_MAPPER_PIPELINEGRCh37
Build 363140,212,555 - 166,212,555RGDNCBI36
Build 34349,573,537 - 90,224,819RGD
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
COPD16_HHumanchronic obstructive pulmonary disease  IAGP 1331518 RGD 

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
COPD16_HHumanAbnormal respiratory system physiology  QTM 1331518 RGD 

#
Reference Title
Reference Citation
1. Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease. Palmer LJ, etal., Hum Mol Genet 2003 May 15;12(10):1199-210.


1 to 20 of 1565 rows
The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD ID
Symbol
Name
Chr
Start
Stop
Species
1347797RHOAras homolog family member A34935914549411976Human
155652787LOC127397434H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49423846-4942440034938641349386967Human
155654558LOC127397435H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49424401-4942495434938696849387521Human
155656645LOC127397436H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49426165-4942693434938873249389501Human
38653721LOC112935946Sharpr-MPRA regulatory region 793534941112349412635Human
1342729TCTAT cell leukemia translocation altered34941242349416476Human
329408566LOC129936754ATAC-STARR-seq lymphoblastoid active region 1986834941602249416231Human
1343884AMTaminomethyltransferase34941677849422473Human
155659709LOC127397437H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49455091-4945580934941765849418376Human
155662157LOC127397438H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49458781-4945953334942134849422100Human
155657336LOC127397439H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49459534-4946028734942210149422854Human
1350970NICN1nicolin 1, tubulin polyglutamylase complex subunit34942233349429324Human
329411283LOC129936755ATAC-STARR-seq lymphoblastoid active region 1986934942905549429254Human
329403928LOC129936756ATAC-STARR-seq lymphoblastoid active region 1987034944414849444497Human
329404810LOC129936757ATAC-STARR-seq lymphoblastoid active region 1987134944898549449124Human
155646386LOC127397440H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49496363-4949711834945893049459685Human
155659521LOC127397441H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49498631-4949938634946119849461953Human
155647247LOC127397442H3K27ac hESC enhancer GRCh37_chr3:49502186-4950268634946475349465253Human
10399263RNA5SP130RNA, 5S ribosomal pseudogene 13034946711549467228Human
1344302DAG1dystroglycan 134946894849535615Human

1 to 20 of 1565 rows
The following Markers overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Expected Size
Chr
Start
Stop
Species
Match
1298237D3S238412434938065149380774Humanregion

Flank 1: (D3S2384)
Human AssemblyChrPosition (strand)Source
GRCh38349,380,651 - 49,380,774RGD
GRCh37349,418,084 - 49,418,207UniSTS
Celera349,382,948 - 49,383,065UniSTS
Cytogenetic Map3p21.3UniSTS
HuRef349,477,669 - 49,477,786UniSTS
Marshfield Genetic Map3 UniSTS
deCODE Assembly Map3 UniSTS
Whitehead-RH Map3 UniSTS
Peak: (D3S1746)
Human AssemblyChrPosition (strand)Source
GRCh373151,729,741 - 151,729,989UniSTS
Build 363153,212,431 - 153,212,679RGD
Celera3150,147,860 - 150,148,108RGD
HuRef3149,120,505 - 149,120,757UniSTS
Marshfield Genetic Map3169.6UniSTS
Marshfield Genetic Map3169.6RGD
TNG Radiation Hybrid Map386567.0UniSTS
Stanford-G3 RH Map36873.0UniSTS
Whitehead-RH Map3696.7UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map31337.7UniSTS


1 to 10 of 5952 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597312410GWAS1408484_Hcortical thickness QTL GWAS1408484 (human)2e-14cortical thickness36985708069857081Human
597173145GWAS1269219_Hprotein measurement QTL GWAS1269219 (human)3e-44protein measurement35681572156815722Human
407271495GWAS920471_Hhemoglobin measurement QTL GWAS920471 (human)3e-11hemoglobin measurementhemoglobin measurement (CMO:0000508)37234349472343495Human
407017541GWAS666517_Hdiet measurement, HOMA-B QTL GWAS666517 (human)0.000006eating behavior trait (VT:0001431)Homeostatic Model Assessment of Beta cell function (CMO:0003211)36539361965393620Human
596951964GWAS1071483_Hmean platelet volume QTL GWAS1071483 (human)2e-13sphinganine measurement35681572156815722Human
597181328GWAS1277402_Hprotein measurement QTL GWAS1277402 (human)2e-39protein measurement35681572156815722Human
407263318GWAS912294_Hblood protein measurement QTL GWAS912294 (human)2e-11blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)35282121352821214Human
597377931GWAS1474005_Hbody mass index QTL GWAS1474005 (human)0.000006body mass indexbody mass index (BMI) (CMO:0000105)37041417970414180Human
596951942GWAS1071461_Hbody mass index QTL GWAS1071461 (human)6e-11body mass index36496166564961666Human
597361551GWAS1457625_Hreticulocyte count QTL GWAS1457625 (human)2e-09reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)37224001972240020Human

1 to 10 of 5952 rows


Database
Acc Id
Source(s)
NCBI Gene COPD16_H
OMIM 606963

Note Type Note Reference
qtl_population_details pedigrees described as primarily Caucasian 1331518
qtl_population_details 560 individuals from 72 pedigress were studied, probands have early onset COPD that is not due to alpha 1 anti-trypsin (AAT) deficiency, airflow obstruction among probands is described as very severe, with mean post-bronchodilator FEV1 (forced expiratory volume at one second) values of 20.2% predicted (SD=7.8) and mean postbronchodilator FEV1/FVC (ratio of FEV1 to forced vital capacity) values of 36.4% predicted (SD=12.3) 1331518
qtl_statistics_details BDRBASE measurement equals (postbronchodilator FEV1 minus prebronchodilator FEV1)/prebronchodilator FEV1 x 100 1331518
qtl_statistics_details genome-wide multipoint variance component analysis carried out using SOLAR 1331518