SNP Report

Basic Infomation

Name	rs12988616 dbSNP
Location	chr:2,61244663
Allele	A/C

LD-proxy of rSNPs(r²>0.8) (count: 21)

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]
rs10496090	0.82[GIH][hapmap];0.86[TSI][hapmap]
rs12464096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12996153	0.86[TSI][hapmap]
rs12998880	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005116	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014803	0.81[CEU][hapmap];0.86[TSI][hapmap]
rs13017457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108630	0.88[ASW][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap]
rs35217978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35780543	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35976602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3732173	1.00[JPT][hapmap]
rs4564760	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150970	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150977	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545842	1.00[JPT][hapmap]
rs6760104	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.93[YRI][hapmap]
rs72809436	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

rSNP related genes

Symbol	Regulation type
PUS10	Proximal transcriptional regulation
PEX13	Proximal transcriptional regulation
C8orf37	Distal transcriptional regulation
ENSG00000228414	Distal transcriptional regulation
REL	Distal transcriptional regulation
AHSA2	Distal transcriptional regulation
KIAA1841	Distal transcriptional regulation
CCT4	Distal transcriptional regulation
COMMD1	Distal transcriptional regulation
PUS10	RNA binding protein mediated regulation
PEX13	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: 7)

eQTL related gene	Source
DMC1	SCAN
C2orf74	seeQTL
FLJ32312	Pritchard
PUS10	SCAN
AHSA2	SCAN
PUS10	SCAN
LOC339803	SCAN