OSTEAR10_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: OSTEAR10_H (Osteoarthritis QTL 10 (human)) Homo sapiens

Symbol: OSTEAR10_H
Name: Osteoarthritis QTL 10 (human)
RGD ID: 1298432
Previously known as: OA10_H
Trait: Joint/bone inflammation
Measurement Type: distal interphalangeal joint osteoarthritis
LOD Score: 2.34
P Value: 1.0E-4
Variance: Not Available
Inheritance Type: dominant
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38297,592,766 - 106,657,498RGD_MAPPER_PIPELINEGRCh38
GRCh372101,242,203 - 104,240,981RGD_MAPPER_PIPELINEGRCh37
Build 362100,608,635 - 106,640,386RGDNCBI36
Build 342100,600,697 - 106,832,591RGD
Population Stats: Finnish sib pairs exhibiting symptoms of severe hand osteoarthritis
JBrowse: View Region in Genome Browser (JBrowse)
Model




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
OSTEAR10_HHumanosteoarthritis  IDA 738112 RGD 

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
OSTEAR10_HHumanArthritis  QTM 738112 RGD 

#
Reference Title
Reference Citation
1. Genome scan for predisposing loci for distal interphalangeal joint osteoarthritis: evidence for a locus on 2q. Leppavuori J, etal., Am J Hum Genet 1999 Oct;65(4):1060-7.


1 to 20 of 554 rows
The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD ID
Symbol
Name
Chr
Start
Stop
Species
155633692LOC127274165H3K4me1 hESC enhancer GRCh37_chr2:98222123-9822297929760566097606516Human
38645988LOC105373499uncharacterized LOC10537349929760709597612902Human
155634249LOC127274166H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:98233139-9823365629761667697617193Human
155633861LOC127274167H3K4me1 hESC enhancer GRCh37_chr2:98235127-9823600829761866497619545Human
155637310LOC127274168H3K4me1 hESC enhancer GRCh37_chr2:98238522-9823902229762205997622559Human
329343526LOC129388891MPRA-validated peak3795 silencer29762583397626033Human
2302194UBTFL6UBTF like 6 (pseudogene)29763658597637765Human
155632378LOC127274169NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:98261483-9826241729764502097645954Human
329406589LOC129934385ATAC-STARR-seq lymphoblastoid active region 1623929764598797646166Human
734145COX5Bcytochrome c oxidase subunit 5B29764606297648383Human
1316546ACTR1Bactin related protein 1B29765593997664044Human
155635680LOC127274170H3K27ac hESC enhancer GRCh37_chr2:98278969-9827961029766250697663182Human
329411448LOC129934386ATAC-STARR-seq lymphoblastoid silent region 1179229766354397663602Human
329410600LOC129934387ATAC-STARR-seq lymphoblastoid silent region 1179329766368397664142Human
7371926C2orf92chromosome 2 open reading frame 9229766394197703066Human
329410880LOC129934388ATAC-STARR-seq lymphoblastoid active region 1624129766422397664562Human
151673569RNU4-8PRNA, U4 small nuclear 8, pseudogene29766429297664970Human
1351806RNU4-8PRNA, U4 small nuclear 8, pseudogene29766459197664731Human
153350247LOC126806276BRD4-independent group 4 enhancer GRCh37_chr2:98304422-9830562129768795997689158Human
155632682LOC127274171H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:98307157-9830795629769069497691493Human

1 to 20 of 554 rows
The following Markers overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Expected Size
Chr
Start
Stop
Species
Match
7191059D2S2931772106657322106657498Humanregion

Flank 1: (D2S2209)
Human AssemblyChrPosition (strand)Source
GRCh372101,242,203 - 101,242,388UniSTS
Build 362100,608,635 - 100,608,820RGD
Celera295,446,821 - 95,447,006RGD
HuRef295,006,334 - 95,006,529UniSTS
Marshfield Genetic Map2112.28RGD
Marshfield Genetic Map2112.28UniSTS
Genethon Genetic Map2116.4UniSTS
deCODE Assembly Map2114.83UniSTS
Whitehead-YAC Contig Map2 UniSTS
Peak: (IL1R1)
Human AssemblyChrPosition (strand)Source
GRCh382102,070,390 - 102,179,874 (+)NCBI
GRCh38.p14 Ensembl2102,064,544 - 102,179,874 (+)Ensembl
GRCh372102,686,850 - 102,796,334 (+)NCBI
Build 362102,136,834 - 102,162,766 (+)NCBI
Build 342102,228,919 - 102,254,852NCBI
Celera296,971,617 - 96,997,550 (+)NCBI
Cytogenetic Map2q11.2-q12.1NCBI
HuRef296,534,264 - 96,560,197 (+)NCBI
CHM1_12102,774,745 - 102,800,675 (+)NCBI
T2T-CHM13v2.02102,528,685 - 102,638,160 (+)NCBI
Flank 2: (D2S293)
Human AssemblyChrPosition (strand)Source
GRCh382106,657,322 - 106,657,498RGD
Marshfield Genetic Map2 UniSTS
Genethon Genetic Map2 UniSTS
deCODE Assembly Map2 UniSTS
Whitehead-YAC Contig Map2 UniSTS


1 to 10 of 1659 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
597308315GWAS1404389_Hpulse pressure measurement QTL GWAS1404389 (human)5e-09pulse pressure measurementpulse pressure (CMO:0000292)2100960284100960285Human
597046164GWAS1142238_Hatopic asthma QTL GWAS1142238 (human)7e-12atopic asthma2102226205102226206Human
597255067GWAS1351141_Hage at first sexual intercourse measurement QTL GWAS1351141 (human)3e-15age at first sexual intercourse measurement2103444330103444331Human
597308316GWAS1404390_Hpulse pressure measurement QTL GWAS1404390 (human)2e-08pulse pressure measurementpulse pressure (CMO:0000292)2105511459105511460Human
596976542GWAS1096061_Hulcerative colitis QTL GWAS1096061 (human)5e-15ulcerative colitis2102368211102368212Human
596951940GWAS1071459_Hbody mass index QTL GWAS1071459 (human)6e-11body mass index2100153465100153466Human
1298432OSTEAR10_HOsteoarthritis QTL 10 (human)2.340.0001Joint/bone inflammationdistal interphalangeal joint osteoarthritis297592766106657498Human
597164943GWAS1261017_HNasal Cavity Polyp QTL GWAS1261017 (human)2e-12Nasal Cavity Polyp2102332701102332702Human
597046158GWAS1142232_Hatopic asthma QTL GWAS1142232 (human)2e-09atopic asthma2102510080102510081Human
597046159GWAS1142233_Hatopic asthma QTL GWAS1142233 (human)5e-10atopic asthma2102562489102562490Human

1 to 10 of 1659 rows


Database
Acc Id
Source(s)
NCBI Gene OSTEAR10_H
OMIM 140600


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2006-04-14 OSTEAR10_H  Osteoarthritis QTL 10 (human)  OA10_H    Symbol updated 1299863 APPROVED

Note Type Note Reference
qtl_gene locus spans the region containing interleukin 1 type I receptor (IL1R1), which also gives the peak LOD score 738112
qtl_population Finnish sib pairs exhibiting symptoms of severe hand osteoarthritis 738112
qtl_population_details 64 subjects are affected sib pairs (11 men, 53 women, mean age 58.9 yrs) derived from 27 independent families; subjects with rheumatoid arthritis were excluded 738112
qtl_statistics_details LOD score is derived from 2-point linkage analysis with MLINK program; P-value is from nonparametric multipoint analysis with SIMWALK 2.4 738112