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  • General Information
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22q12.3

General Information: Available

Organism	Human
Points of Interest	rs3218253
Karyotype Band Location	22q12.3
Chromosomal Location (GRCh37)	Chr22:37539188-37562111
Region Size	0.02 Mb
Orthologous Regions	Mouse: Human 22q12.3 Orthologous Region
Genes in Region (0)

View this region in the Human T1D Regions table.

Non-Synonymous SNPs in region dbSNP134:

Marker	Marker Source	Start	Strand	Peptide Shift	Gene Symbol (HGNC)	Gene ID (Entrez)	Amino Acid Position
rs147889445	dbSNP_134	37539666	+	Q/R	IL2RB	3560	33
rs141522549	dbSNP_134	37540133	+	A/V	IL2RB	3560	27
rs6000577	dbSNP_134	37540139	+	S/Y	IL2RB	3560	25
rs145316401	dbSNP_134	37540149	+	S/P	IL2RB	3560	22
rs57770674	dbSNP_134	37540185	+	L/V	IL2RB	3560	10
rs147593802	dbSNP_134	37540187	+	R/H	IL2RB	3560	9
rs143132364	dbSNP_134	37540188	+	R/C	IL2RB	3560	9
rs148235304	dbSNP_134	37540199	+	A/G	IL2RB	3560	5

(Human) GRCh37 - chr22:37539188..37562111 (22.92 kb)  View in Genome Browser

An overview of the region is provided by GBrowse. Tracks shown include gene information and study-specific data:
Immune Disease Associated Variants	Variants shown to be associated with different auto-immune diseases
P-values, -log(p)	1 degree of freedom p-values, stratified by geographic location. Generated using snpMatrix with data from the T1DGC Meta-analysis study.
HapMap Recobination Data	Genome-wide recombination rate from Phase 2 HapMap estimated from phased haplotypes in HapMap Release 22 (NCBI 36). Units are in cM/Mb, coordinates have been projected to the current build.

Genes in LD Region: Available

Summary data derived from GWA meta analysis Barrett et al. LD regions were calculated using different r² and D' threshold values, and these regions were then examined for genes. The definition of a gene location includes a 3kb flanking region either side of the gene.

Marker Data		Region Data					Links
		r2 Threshold	D' Threshold	Region	Genes
Marker rs3218253 Chr 22 Position 37544810 Strand P-Value 2.54e-05		N/A	0.5	chr22: 37529724..37558356	IL2RB		LD Region Feature File LD File
		0.4	N/A	chr22: 37544245..37558356	IL2RB
		0.8	N/A	chr22: 37544245..37545505	IL2RB
		1	N/A	chr22: 37544245..37544810	IL2RB

Publications: 4

• Skp2 is required for survival of aberrantly proliferating Rb1-deficient cells and for tumorigenesis in Rb1+/- mice.
  Wang H, Bauzon F, Ji P, Xu X, Sun D, Locker J, Sellers RS, Nakayama K, Nakayama KI, Cobrinik D, Zhu L
  Nat Genet. 2010
  PubMed ID: 19966802
   
  
• Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.
  Raychaudhuri S, Thomson BP, Remmers EF, Eyre S, Hinks A, Guiducci C, Catanese JJ, Xie G, Stahl EA, Chen R, Alfredsson L, Amos CI, Ardlie KG, BIRAC Consortium, Barton A, Bowes J, Burtt NP, Chang M, Coblyn J, Costenbader KH, Criswell LA, Crusius JB, Cui J, De Jager PL, Ding B, Emery P, Flynn E, Harrison P, Hocking LJ, Huizinga TW, Kastner DL, Ke X, Kurreeman FA, Lee AT, Liu X, Li Y, Martin P, Morgan AW, Padyukov L, Reid DM, Seielstad M, Seldin MF, Shadick NA, Steer S, Tak PP, Thomson W, van der Helm-van Mil AH, van der Horst-Bruinsma IE, Weinblatt ME, Wilson AG, Wolbink GJ, Wordsworth P, YEAR Consortium, Altshuler D, Karlson EW, Toes RE, de Vries N, Begovich AB, Siminovitch KA, Worthington J, Klareskog L, Gregersen PK, Daly MJ, Plenge RM
  Nat Genet. 2009
  PubMed ID: 19898481
   
  
• Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
  Barrett JC, Clayton DG, Concannon P, Akolkar B, Cooper JD, Erlich HA, Julier C, Morahan G, Nerup J, Nierras C, Plagnol V, Pociot F, Schuilenburg H, Smyth DJ, Stevens H, Todd JA, Walker NM, Rich SS, The Type 1 Diabetes Genetics Consortium
  Nat Genet. 2009
  PubMed ID: 19430480
   
  
• Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13.
  Barton A, Thomson W, Ke X, Eyre S, Hinks A, Bowes J, Plant D, Gibbons LJ, Wellcome Trust Case Control Consortium, YEAR Consortium, BIRAC Consortium, Wilson AG, Bax DE, Morgan AW, Emery P, Steer S, Hocking L, Reid DM, Wordsworth P, Harrison P, Worthington J
  Nat Genet. 2008
  PubMed ID: 18794857
   
  

Signal Clouds: Available

Genotype data for collections is plotted to give a visual sense of the quality of clustering. The two homozygous and the heterozygous genotypes are represented by different colours; a clear separation between the clouds is indicative of good clustering.

Source: ImmunoChip

Source: WTCCC

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