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11p15.5

General Information: Available

Organism	Human
Points of Interest	rs689; rs7111341
Karyotype Band Location	11p15.5
Chromosomal Location (GRCh37)	Chr11:2068424-2308304
Region Size	0.24 Mb
Orthologous Regions	Mouse: Human 11p15.5 Orthologous Region Rat: Human 11p15.5 Orthologous Region
Genes in Region (7)	ASCL2, IGF2, IGF2-AS, INS, INS-IGF2, MIR483, TH

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
rs12993	dbSNP_134	2154220	-	K/N	IGF2	3481	180
rs1050342	dbSNP_134	2154242	-	P/Q	IGF2	3481	173
rs11545014	dbSNP_134	2154243	-	P/S	IGF2	3481	173
rs61732764	dbSNP_134	2154293	+	R/H	IGF2	3481	156
rs146962483	dbSNP_134	2154299	+	R/H	IGF2	3481	154
rs150866176	dbSNP_134	2154321	+	E/K	IGF2	3481	147
rs14367	dbSNP_134	2154400	-	K/N	IGF2	3481	120
rs143785521	dbSNP_134	2154760	+	P/L	IGF2	3481	98
rs150610908	dbSNP_134	2154859	+	G/D	IGF2	3481	65
rs112276039	dbSNP_134	2156690	+	C/R	IGF2	3481	22
rs142012621	dbSNP_134	2156695	+	S/L	IGF2	3481	20
rs146334276	dbSNP_134	2156733	+	K/N	IGF2	3481	7
rs10770125	dbSNP_134	2169014	+	L/P	INS-IGF2	723961	144
rs147404873	dbSNP_134	2170468	+	G/S	INS-IGF2	723961	99
rs80356672	dbSNP_134	2181092	-	Y/C	INS	3630	108
rs121908277	dbSNP_134	2181107	-	Y/C	INS	3630	103
rs121908276	dbSNP_134	2181113	-	S/C	INS	3630	101
rs80356671	dbSNP_134	2181128	-	C/Y	INS	3630	96
rs121918102	dbSNP_134	2181141	-	V/L	INS	3630	92
rs80356670	dbSNP_134	2181147	-	G/C	INS	3630	90
rs28933985	dbSNP_134	2181149	-	R/H	INS	3630	89
rs80356669	dbSNP_134	2181150	-	R/C	INS	3630	89
rs121908274	dbSNP_134	2181165	-	G/R	INS	3630	84
rs139264769	dbSNP_134	2181188	+	S/N	INS	3630	76
rs144093133	dbSNP_134	2181191	+	G/D	INS	3630	75
rs121908279	dbSNP_134	2181213	-	L/M	INS	3630	68
rs41301451	dbSNP_134	2181214	+	E/D	INS	3630	67
rs121908261	dbSNP_134	2182039	-	R/C	INS	3630	55
rs121908261	dbSNP_134	2182039	-	R/C	INS-IGF2	723961	55
rs145038693	dbSNP_134	2182047	+	P/R	INS	3630	52
rs145038693	dbSNP_134	2182047	+	P/R	INS-IGF2	723961	52
rs80356668	dbSNP_134	2182059	-	F/S	INS	3630	48
rs80356668	dbSNP_134	2182059	-	F/S	INS-IGF2	723961	48
rs80356667	dbSNP_134	2182062	-	G/V	INS	3630	47
rs80356667	dbSNP_134	2182062	-	G/V	INS-IGF2	723961	47
rs121908260	dbSNP_134	2182065	-	R/Q	INS	3630	46
rs121908260	dbSNP_134	2182065	-	R/Q	INS-IGF2	723961	46
rs80356666	dbSNP_134	2182075	-	C/G	INS	3630	43
rs80356666	dbSNP_134	2182075	-	C/G	INS-IGF2	723961	43
rs11557614	dbSNP_134	2182089	-	A/V	INS	3630	38
rs11557614	dbSNP_134	2182089	-	A/V	INS-IGF2	723961	38
rs121908273	dbSNP_134	2182098	-	L/P	INS	3630	35
rs121908273	dbSNP_134	2182098	-	L/P	INS-IGF2	723961	35
rs121918101	dbSNP_134	2182102	-	H/D	INS	3630	34
rs121918101	dbSNP_134	2182102	-	H/D	INS-IGF2	723961	34
rs80356664	dbSNP_134	2182108	-	G/S	INS	3630	32
rs80356664	dbSNP_134	2182108	-	G/S	INS-IGF2	723961	32
rs121908272	dbSNP_134	2182117	-	H/D	INS	3630	29
rs121908272	dbSNP_134	2182117	-	H/D	INS-IGF2	723961	29
rs80356663	dbSNP_134	2182131	-	A/D	INS	3630	24
rs80356663	dbSNP_134	2182131	-	A/D	INS-IGF2	723961	24
rs13306444	dbSNP_134	2182135	-	A/T	INS	3630	23
rs13306444	dbSNP_134	2182135	-	A/T	INS-IGF2	723961	23
rs121908259	dbSNP_134	2182185	-	R/H	INS	3630	6
rs121908259	dbSNP_134	2182185	-	R/H	INS-IGF2	723961	6
rs121908278	dbSNP_134	2182186	-	R/C	INS	3630	6
rs121908278	dbSNP_134	2182186	-	R/C	INS-IGF2	723961	6
rs78426052	dbSNP_134	2185527	-	R/H	TH	7054	508
rs78779683	dbSNP_134	2185528	+	R/C	TH	7054	508
rs147585774	dbSNP_134	2185534	+	V/M	TH	7054	506
rs1800033	dbSNP_134	2185555	-	V/M	TH	7054	499
rs45471299	dbSNP_134	2185569	-	T/M	TH	7054	494
rs138291013	dbSNP_134	2185608	+	R/H	TH	7054	481
rs145710091	dbSNP_134	2186926	+	G/E	TH	7054	422
rs121917762	dbSNP_134	2186957	-	Q/K	TH	7054	412
rs121917765	dbSNP_134	2187774	-	C/F	TH	7054	359
rs28934580	dbSNP_134	2187923	-	R/H	TH	7054	337
rs121917764	dbSNP_134	2187992	-	T/M	TH	7054	314
rs28934581	dbSNP_134	2188225	-	T/P	TH	7054	276
rs141907589	dbSNP_134	2188686	+	T/N	TH	7054	256
rs150559011	dbSNP_134	2188698	+	R/H	TH	7054	252
rs121917763	dbSNP_134	2189126	-	L/P	TH	7054	236
rs80338892	dbSNP_134	2189135	-	R/H	TH	7054	233
rs139807727	dbSNP_134	2189347	+	D/N	TH	7054	215
rs28934579	dbSNP_134	2189379	-	L/P	TH	7054	204
rs113018526	dbSNP_134	2189744	+	V/A	TH	7054	186
rs145023516	dbSNP_134	2189745	+	V/M	TH	7054	186
rs76831425	dbSNP_134	2189746	+	D/E	TH	7054	185
rs147569564	dbSNP_134	2189756	+	V/A	TH	7054	182
rs142046543	dbSNP_134	2189802	+	V/M	TH	7054	167
rs143087358	dbSNP_134	2189805	+	E/K	TH	7054	166
rs150260759	dbSNP_134	2190929	+	P/L	TH	7054	119
rs6356	dbSNP_134	2190951	-	V/M	TH	7054	112
rs75183227	dbSNP_134	2191020	-	A/S	TH	7054	89
rs144286362	dbSNP_134	2191933	+	T/N	TH	7054	57
rs148235227	dbSNP_134	2191969	+	P/L	TH	7054	45
rs147416823	dbSNP_134	2192927	+	M/I	TH	7054	30
rs139742336	dbSNP_134	2192936	+	E/D	TH	7054	27
rs74555599	dbSNP_134	2193001	-	A/T	TH	7054	6
rs139474171	dbSNP_134	2193012	+	P/L	TH	7054	2

(Human) GRCh37 - chr11:2068424..2308304 (239.88 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 rs689 Chr 11 Position 2182224 Strand P-Value 0.000		N/A	0.5	chr11: 2130620..2234169	MIR4686 IGF2 INS IGF2-AS MIR483 TH INS-IGF2		LD Region Feature File LD File
		0.4	N/A	chr11: 2167303..2189983	IGF2 INS IGF2-AS TH INS-IGF2
		0.8	N/A	chr11: 2181060..2184848	IGF2 INS INS-IGF2
		1	N/A	chr11: 2181060..2182224	IGF2 INS INS-IGF2
Marker rs7111341 Chr 11 Position 2213166 Strand P-Value 4.43e-48		N/A	0.5	chr11: 2176105..2297593	MIR4686 IGF2 INS ASCL2 TH INS-IGF2		LD Region Feature File LD File
		0.4	N/A	chr11: 2193597..2234690	MIR4686
		0.8	N/A	chr11: 2204717..2215089
		1	N/A	chr11: 2212448..2214811

Publications: 4

• 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
   
  
• Shared and distinct genetic variants in type 1 diabetes and celiac disease.
  Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA, Todd JA
  N Engl J Med. 2008
  PubMed ID: 19073967
   
  
• Remapping the insulin gene/IDDM2 locus in type 1 diabetes.
  Barratt BJ, Payne F, Lowe CE, Hermann R, Healy BC, Harold D, Concannon P, Gharani N, McCarthy MI, Olavesen MG, McCormack R, Guja C, Ionescu-Tîrgovişte C, Undlien DE, Rønningen KS, Gillespie KM, Tuomilehto-Wolf E, Tuomilehto J, Bennett ST, Clayton DG, Cordell HJ, Todd JA
  Diabetes. 2004
  PubMed ID: 15220214
   
  
• A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus.
  Bell GI, Horita S, Karam JH
  Diabetes. 1984
  PubMed ID: 6363172
   
  

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: T1DGC 4K-4K Study - 2008

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