SNP Report

Basic Infomation

Name	rs253947 dbSNP
Location	chr:5,131330515
Allele	C/T

LD-proxy of rSNPs(r²>0.8) (count: 68)

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]
rs12656759	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs173812	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2108450	0.80[JPT][hapmap]
rs246755	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs246998	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs246999	0.97[ASN][1000 genomes]
rs247000	0.87[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.86[MKK][hapmap];0.90[YRI][hapmap];0.97[ASN][1000 genomes]
rs247001	0.94[ASN][1000 genomes]
rs247002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs247003	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs247004	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs247005	1.00[ASN][1000 genomes]
rs247006	1.00[ASN][1000 genomes]
rs247217	0.81[ASN][1000 genomes]
rs253941	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs253943	0.82[CHB][hapmap]
rs253944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253945	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253946	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs253948	0.91[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs253949	0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs25882	0.84[CEU][hapmap]
rs31401	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs31480	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs31481	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs380182	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs3914023	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs3914024	0.82[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs3914025	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs3914026	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs3916444	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs399714	0.82[CHB][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap]
rs40401	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs407204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40819	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs413185	0.82[CHB][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap]
rs417585	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421377	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs422090	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs422130	0.95[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs423957	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426991	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs440970	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.99[ASN][1000 genomes]
rs449915	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];1.00[ASN][1000 genomes]
rs4705909	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4705910	0.86[ASN][1000 genomes]
rs4705911	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4705912	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs4705913	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs476428	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs493829	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs555662	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs559971	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs587759	0.81[ASN][1000 genomes]
rs615305	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs630044	0.83[MEX][hapmap]
rs635164	0.81[JPT][hapmap]
rs644713	0.98[ASN][1000 genomes]
rs6596048	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs6596049	0.86[ASN][1000 genomes]
rs6596050	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs676944	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs687429	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6877405	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs71970	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs77937	1.00[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs77938	0.93[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs82125	0.86[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.87[ASN][1000 genomes]

rSNP related genes

Symbol	Regulation type
ACSL6	Proximal 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
P4HA2	seeQTL
RAD50	SCAN
HINT1	SCAN
RAPGEF6	SCAN
ACSL6	SCAN