SNP Report

Basic Infomation

Name	rs253948 dbSNP
Location	chr:5,131322026
Allele	T/C

LD-proxy of rSNPs(r²>0.8) (count: 78)

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]
rs10054618	0.84[MEX][hapmap]
rs12656759	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1604080	0.84[MEX][hapmap]
rs173811	0.84[AMR][1000 genomes]
rs173812	0.82[CHB][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes]
rs2074808	0.81[TSI][hapmap]
rs2133707	0.84[MEX][hapmap]
rs246755	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs246844	0.93[CEU][hapmap]
rs246998	0.93[CEU][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs246999	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs247000	0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs247001	0.89[ASN][1000 genomes]
rs247002	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs247003	0.94[ASN][1000 genomes]
rs247004	0.93[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247005	0.94[ASN][1000 genomes]
rs247006	0.94[ASN][1000 genomes]
rs253941	0.82[CHB][hapmap];0.86[AMR][1000 genomes]
rs253943	0.82[CHB][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes]
rs253944	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs253945	0.91[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs253946	0.91[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs253947	0.91[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs253949	0.93[CEU][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs25881	0.87[CEU][hapmap]
rs31401	0.81[JPT][hapmap]
rs31480	0.86[JPT][hapmap]
rs31481	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs380182	0.82[CHB][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes]
rs3914023	0.84[JPT][hapmap]
rs3914024	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs3914025	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs3914026	0.90[JPT][hapmap]
rs3916444	0.93[CEU][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs399714	0.82[CHB][hapmap]
rs40401	0.86[JPT][hapmap]
rs407204	0.90[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs40819	0.82[CHB][hapmap]
rs413185	0.82[CHB][hapmap]
rs417585	0.93[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs421377	0.91[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs422090	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs422130	0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs422291	0.85[AMR][1000 genomes]
rs423957	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs426991	0.95[ASN][1000 genomes]
rs440970	0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs449915	0.91[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4705903	0.80[MEX][hapmap]
rs4705909	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs4705910	0.81[ASN][1000 genomes]
rs4705911	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs4705912	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs4705913	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs476428	0.82[CHB][hapmap];0.95[MEX][hapmap]
rs493829	0.81[CHB][hapmap]
rs555662	0.93[CEU][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs559971	0.82[CHB][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes]
rs587759	0.87[CEU][hapmap]
rs615305	0.81[CHB][hapmap]
rs635164	0.86[CHB][hapmap];0.84[AMR][1000 genomes]
rs644713	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6596041	0.90[MEX][hapmap]
rs6596048	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs6596049	0.82[ASN][1000 genomes]
rs6596050	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs676944	0.82[CHB][hapmap]
rs683749	0.90[MEX][hapmap]
rs687429	0.91[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs6877405	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs71970	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7708140	0.80[MEX][hapmap]
rs77937	1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs77938	1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs804059	0.90[MEX][hapmap]
rs82125	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs924434	0.84[MEX][hapmap]

rSNP related genes

Symbol	Regulation type
ENSG00000230612	Distal transcriptional regulation
ACSL6	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: 5)

eQTL related gene	Source
RNF216L	SCAN
P4HA2	seeQTL
RAD50	SCAN
RAPGEF6	SCAN
P4HA2	SCAN