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7p12.1

General Information: Available

Organism	Human
Points of Interest	rs4948088
Karyotype Band Location	7p12.1
Chromosomal Location (GRCh37)	Chr7:50899168-51672506
Region Size	0.77 Mb
Orthologous Regions	Mouse: Human 7p12.1 Orthologous Region Mouse: Human 7p12.1 Orthologous Region Rat: Human 7p12.1 Orthologous Region
Genes in Region (3)	COBL, LOC100131871, LOC100133177

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
rs140530900	dbSNP_134	51085262	+	P/S	COBL	23242	1258
rs145619235	dbSNP_134	51092823	+	A/P	COBL	23242	1251
rs138223936	dbSNP_134	51092832	+	G/S	COBL	23242	1248
rs143573104	dbSNP_134	51092868	+	D/N	COBL	23242	1236
rs140576062	dbSNP_134	51093005	+	S/L	COBL	23242	1190
rs142703851	dbSNP_134	51093012	+	Q/X	COBL	23242	1188
rs139118175	dbSNP_134	51093024	+	A/T	COBL	23242	1184
rs148764586	dbSNP_134	51093069	+	V/L	COBL	23242	1169
rs140286972	dbSNP_134	51094256	+	C/Y	COBL	23242	1164
rs61737954	dbSNP_134	51094269	+	H/Y	COBL	23242	1160
rs140694702	dbSNP_134	51094274	+	R/H	COBL	23242	1158
rs151034505	dbSNP_134	51094296	+	S/A	COBL	23242	1151
rs71540286	dbSNP_134	51095468	+	L/M	COBL	23242	1109
rs138780424	dbSNP_134	51095491	+	R/I	COBL	23242	1101
rs145913196	dbSNP_134	51095563	+	G/E	COBL	23242	1077
rs117542691	dbSNP_134	51095588	+	K/E	COBL	23242	1069
rs142891237	dbSNP_134	51095665	+	A/V	COBL	23242	1043
rs144463257	dbSNP_134	51095696	+	S/G	COBL	23242	1033
rs17134127	dbSNP_134	51095750	+	A/P	COBL	23242	1015
rs150541791	dbSNP_134	51095753	+	R/C	COBL	23242	1014
rs139496262	dbSNP_134	51095815	+	C/Y	COBL	23242	993
rs145802420	dbSNP_134	51095837	+	R/C	COBL	23242	986
rs146832592	dbSNP_134	51095933	+	V/F	COBL	23242	954
rs139783292	dbSNP_134	51095939	+	G/R	COBL	23242	952
rs144492946	dbSNP_134	51095940	+	R/S	COBL	23242	951
rs17134128	dbSNP_134	51096014	+	D/N	COBL	23242	927
rs2240089	dbSNP_134	51096036	+	H/Q	COBL	23242	919
rs151276908	dbSNP_134	51096121	+	Y/C	COBL	23242	891
rs141601001	dbSNP_134	51096140	+	V/M	COBL	23242	885
rs138818719	dbSNP_134	51096155	+	K/E	COBL	23242	880
rs141474418	dbSNP_134	51096169	+	R/H	COBL	23242	875
rs149461023	dbSNP_134	51096311	+	P/S	COBL	23242	828
rs138592316	dbSNP_134	51096346	+	P/L	COBL	23242	816
rs141630570	dbSNP_134	51096355	+	P/L	COBL	23242	813
rs146375254	dbSNP_134	51096361	+	P/L	COBL	23242	811
rs138368516	dbSNP_134	51096394	+	T/M	COBL	23242	800
rs150697717	dbSNP_134	51096418	+	P/L	COBL	23242	792
rs149652199	dbSNP_134	51096473	+	N/H	COBL	23242	774
rs149772928	dbSNP_134	51096532	+	S/L	COBL	23242	754
rs141690298	dbSNP_134	51096568	+	P/R	COBL	23242	742
rs145432183	dbSNP_134	51096569	+	P/S	COBL	23242	742
rs141355954	dbSNP_134	51096632	+	D/N	COBL	23242	721
rs143387495	dbSNP_134	51096640	+	R/P	COBL	23242	718
rs148352652	dbSNP_134	51096673	+	T/M	COBL	23242	707
rs148062130	dbSNP_134	51096683	+	G/S	COBL	23242	704
rs35410273	dbSNP_134	51096775	+		COBL	23242	673
rs75851854	dbSNP_134	51096812	-	Q/K	COBL	23242	661
rs112568753	dbSNP_134	51096830	+	A/P	COBL	23242	655
rs141670842	dbSNP_134	51096910	+	A/V	COBL	23242	628
rs146220939	dbSNP_134	51096913	+	T/M	COBL	23242	627
rs2240090	dbSNP_134	51096974	+	V/I	COBL	23242	607
rs61737866	dbSNP_134	51096992	+	H/Y	COBL	23242	601
rs139848390	dbSNP_134	51097054	+	A/V	COBL	23242	580
rs34883796	dbSNP_134	51097060	+	S/L	COBL	23242	578
rs10230120	dbSNP_134	51097063	+	D/A	COBL	23242	577
rs139731072	dbSNP_134	51097091	+	D/Y	COBL	23242	568
rs142097660	dbSNP_134	51097103	+	A/T	COBL	23242	564
rs71555920	dbSNP_134	51097128	+		COBL	23242	555
rs146340138	dbSNP_134	51097193	+	G/S	COBL	23242	534
rs17656599	dbSNP_134	51097216	+	P/L	COBL	23242	526
rs142839981	dbSNP_134	51097235	+	G/R	COBL	23242	520
rs61739178	dbSNP_134	51097255	+	S/F	COBL	23242	513
rs142060269	dbSNP_134	51098567	+		COBL	23242	482
rs75207469	dbSNP_134	51098570	+	E/D	COBL	23242	481
rs74996531	dbSNP_134	51098572	+	EE/E	COBL	23242	480
rs58682836	dbSNP_134	51098573	+	EE/E	COBL	23242	480
rs74801345	dbSNP_134	51098573	+		COBL	23242	480
rs76265922	dbSNP_134	51098573	+	E/D	COBL	23242	480
rs137938302	dbSNP_134	51111210	+	M/L	COBL	23242	426
rs141681360	dbSNP_134	51111213	+	S/G	COBL	23242	425
rs142585520	dbSNP_134	51111237	+	V/I	COBL	23242	417
rs138046636	dbSNP_134	51111251	+	S/F	COBL	23242	412
rs149438106	dbSNP_134	51111360	+	C/G	COBL	23242	376
rs147541675	dbSNP_134	51152902	+	R/G	COBL	23242	353
rs143842791	dbSNP_134	51152922	+	P/L	COBL	23242	346
rs147232176	dbSNP_134	51152961	+	R/Q	COBL	23242	333
rs148755592	dbSNP_134	51203935	+	V/M	COBL	23242	293
rs142332711	dbSNP_134	51204001	+	S/P	COBL	23242	271
rs139581493	dbSNP_134	51251824	+	K/R	COBL	23242	253
rs143341143	dbSNP_134	51251852	+	E/Q	COBL	23242	244
rs146421017	dbSNP_134	51258723	+	R/H	COBL	23242	170
rs149587714	dbSNP_134	51258744	+	R/Q	COBL	23242	163
rs149068964	dbSNP_134	51258754	+	N/H	COBL	23242	160
rs143066869	dbSNP_134	51258757	+	V/M	COBL	23242	159
rs141529027	dbSNP_134	51261092	+	P/L	COBL	23242	147
rs147256054	dbSNP_134	51261264	+	V/I	COBL	23242	90
rs149682754	dbSNP_134	51261281	+	A/V	COBL	23242	84
rs77956789	dbSNP_134	51287443	+	N/K	COBL	23242	80
rs146242826	dbSNP_134	51287525	+	R/H	COBL	23242	53
rs149804009	dbSNP_134	51287547	+	G/R	COBL	23242	46
rs143984178	dbSNP_134	51459755	+	K/T	LOC100131871	100131871	200
rs141156625	dbSNP_134	51459777	+	Q/X	LOC100131871	100131871	193
rs147344549	dbSNP_134	51459782	+	L/Q	LOC100131871	100131871	191
rs139429443	dbSNP_134	51459807	+	R/W	LOC100131871	100131871	183
rs145252032	dbSNP_134	51460143	+	L/F	LOC100131871	100131871	71
rs4051044	dbSNP_134	51460322	+	Q/R	LOC100131871	100131871	11

(Human) GRCh37 - chr7:50899168..51672506 (773.34 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.

Publications: 1

• 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
   
  

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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Printed on Fri February 10, 2012