SNP Report

Basic Infomation

Name	rs2488457 dbSNP
Location	chr:1,114415368
Allele	G/A/C

LD-proxy of rSNPs(r²>0.8) (count: 67)

The LD data used here is based on HapMap rel#27 and 1000 Genomes phase I data. LD SNP pairs were selected with a threshold r² >=0.8.

rs_ID	r²[population][source]
rs10858017	0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10858018	0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10858019	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10858021	0.82[EUR][1000 genomes]
rs11102691	0.82[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12041547	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12044534	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12061482	0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs12063216	0.84[EUR][1000 genomes]
rs1217376	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1217377	0.85[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1217380	0.90[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1217388	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1217389	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1217395	0.90[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1217396	0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1217407	0.85[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1217410	0.90[CHB][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1217412	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1217413	1.00[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1217415	0.82[GIH][hapmap];0.82[JPT][hapmap]
rs1217416	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1217421	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1230637	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1230638	0.83[EUR][1000 genomes]
rs1230639	0.83[EUR][1000 genomes]
rs1230640	0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs1230642	0.82[EUR][1000 genomes]
rs1230645	0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs1230646	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1230647	0.90[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs1230649	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs1230656	0.86[EUR][1000 genomes]
rs1230661	0.85[EUR][1000 genomes]
rs1230678	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1230679	0.84[EUR][1000 genomes]
rs1230685	0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1237682	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12566340	0.82[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1599971	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1775754	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1935838	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1936398	0.90[CHB][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap]
rs1981319	0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs2093436	0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs2243471	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2295853	0.90[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs2358816	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2358994	1.00[ASW][hapmap]
rs2359167	1.00[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.91[MKK][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2488458	0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2636013	0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs2636014	0.82[EUR][1000 genomes]
rs2797408	0.84[EUR][1000 genomes]
rs2797409	0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2797412	0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3761936	1.00[ASW][hapmap]
rs4145859	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4423005	0.82[EUR][1000 genomes]
rs4565712	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4600045	0.90[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs61817589	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6537795	0.84[EUR][1000 genomes]
rs6663679	0.82[EUR][1000 genomes]
rs6698586	0.90[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs7529353	0.82[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7553188	0.82[EUR][1000 genomes]

rSNP related genes

Symbol	Regulation type
PTPN22	Proximal transcriptional regulation
PTPN22	Distal transcriptional regulation
AP4B1	Distal transcriptional regulation
DCLRE1B	Distal transcriptional regulation
ENSG00000235527	Distal transcriptional regulation
HIPK1	Distal transcriptional regulation
AP4B1-AS1	Distal transcriptional regulation

rSNP related regulatory elements

Proximal transcriptional regulation

Distal transcriptional regulation

Post-transcriptional regulation:within mature miRNA

Post-transcriptional regulation: associated with RNA binding protein

eQTL evidence (count: 5)

eQTL related gene	Source
MAGI3	SCAN
PHTF1	SCAN
MAGI3	SCAN
PHTF1	SCAN
CD58	SCAN