SNP Report

Basic Infomation

Name	rs2040041 dbSNP
Location	chr:1,114312623
Allele	T/C

LD-proxy of rSNPs(r²>0.8) (count: 40)

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]
rs10858015	0.85[ASN][1000 genomes]
rs11102678	0.85[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.88[MKK][hapmap];0.82[TSI][hapmap];0.95[ASN][1000 genomes]
rs1146183	1.00[CHD][hapmap];0.82[GIH][hapmap]
rs1146185	1.00[CHD][hapmap];0.94[GIH][hapmap]
rs12144309	0.86[GIH][hapmap];0.89[MEX][hapmap]
rs1217375	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1217379	0.86[LWK][hapmap]
rs1217382	0.90[JPT][hapmap]
rs1217393	0.90[JPT][hapmap]
rs1217397	0.90[JPT][hapmap]
rs1217401	0.90[JPT][hapmap]
rs1217403	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217406	0.91[LWK][hapmap]
rs1217408	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1217414	1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap]
rs1217417	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1217418	0.91[LWK][hapmap]
rs1217419	0.91[LWK][hapmap]
rs1230673	1.00[CHD][hapmap];0.94[GIH][hapmap]
rs1230681	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1230684	0.95[ASN][1000 genomes]
rs1235000	1.00[CHD][hapmap];0.92[GIH][hapmap]
rs13524	1.00[CHD][hapmap];0.94[GIH][hapmap];0.81[MKK][hapmap]
rs1624335	1.00[CHD][hapmap];0.94[GIH][hapmap];0.81[MKK][hapmap]
rs1743594	0.85[CHD][hapmap];0.94[GIH][hapmap];0.81[MKK][hapmap]
rs1746857	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1746860	0.90[JPT][hapmap]
rs1935836	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1970559	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2185827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2476599	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.81[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2476600	0.86[LWK][hapmap]
rs2476602	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2636000	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636003	1.00[CHD][hapmap];0.94[GIH][hapmap]
rs2797416	0.86[LWK][hapmap]
rs3789597	0.85[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.89[ASN][1000 genomes]
rs3789600	0.88[LWK][hapmap]
rs7555634	0.86[LWK][hapmap]
rs971173	0.90[JPT][hapmap]

rSNP related genes

Symbol	Regulation type
RSBN1	Proximal transcriptional regulation
PHTF1	Distal transcriptional regulation
DCLRE1B	Distal transcriptional regulation
RSBN1	Distal transcriptional regulation
ENSG00000231128	Distal transcriptional regulation
RSBN1	RNA binding protein mediated 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: 4)

eQTL related gene	Source
MAGI3	SCAN
BCL2L15	SCAN
AP4B1	SCAN
RAP1A	SCAN