Variant report

Variant	rs12189398
Chromosome Location	chr5:128196634-128196635
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs11740215	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12518184	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166325	0.83[ASN][1000 genomes]
rs13169590	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13179872	0.82[AMR][1000 genomes]
rs13190393	0.83[ASN][1000 genomes]
rs1421890	0.89[ASN][1000 genomes]
rs17616784	0.83[ASN][1000 genomes]
rs17616974	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap]
rs17616991	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap]
rs1898543	0.83[ASN][1000 genomes]
rs1898544	0.83[ASN][1000 genomes]
rs1898549	0.83[ASN][1000 genomes]
rs2526196	0.83[ASN][1000 genomes]
rs2526201	0.83[ASN][1000 genomes]
rs2526202	0.83[ASN][1000 genomes]
rs2526209	0.83[ASN][1000 genomes]
rs2526210	0.83[ASN][1000 genomes]
rs2526211	0.83[ASN][1000 genomes]
rs2526212	0.83[ASN][1000 genomes]
rs2526213	0.83[ASN][1000 genomes]
rs2526214	0.83[ASN][1000 genomes]
rs2526225	0.80[ASN][1000 genomes]
rs2526239	0.80[ASN][1000 genomes]
rs2526240	0.83[ASN][1000 genomes]
rs2526241	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2526243	1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[ASN][1000 genomes]
rs2526245	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap]
rs2526246	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs2526247	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap]
rs2526248	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2526249	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap]
rs2526251	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs2526252	1.00[CHB][hapmap]
rs2526257	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap]
rs2545015	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs2577399	0.83[ASN][1000 genomes]
rs2577402	0.83[ASN][1000 genomes]
rs2577403	0.83[ASN][1000 genomes]
rs2577429	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap]
rs2577436	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs2577445	0.83[ASN][1000 genomes]
rs2577446	0.83[ASN][1000 genomes]
rs2577504	0.83[ASN][1000 genomes]
rs2577506	0.83[ASN][1000 genomes]
rs2577507	0.83[ASN][1000 genomes]
rs2577508	0.83[ASN][1000 genomes]
rs2577509	0.83[ASN][1000 genomes]
rs2577510	0.83[ASN][1000 genomes]
rs2577511	0.83[ASN][1000 genomes]
rs2577512	0.83[ASN][1000 genomes]
rs2577513	0.83[ASN][1000 genomes]
rs2577514	0.83[ASN][1000 genomes]
rs2577528	0.83[ASN][1000 genomes]
rs2577529	0.80[ASN][1000 genomes]
rs2577530	0.83[ASN][1000 genomes]
rs2577533	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2577534	0.83[ASN][1000 genomes]
rs2577535	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs2577536	0.81[ASN][1000 genomes]
rs2577537	0.81[ASN][1000 genomes]
rs2577538	0.81[ASN][1000 genomes]
rs2577540	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap]
rs2577541	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap]
rs2577542	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap]
rs2577543	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2577545	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap]
rs2577546	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs2577555	0.83[ASN][1000 genomes]
rs2577556	0.83[ASN][1000 genomes]
rs2577560	0.83[ASN][1000 genomes]
rs2577561	0.83[ASN][1000 genomes]
rs2577562	0.83[ASN][1000 genomes]
rs34075274	0.83[ASN][1000 genomes]
rs34299037	0.83[ASN][1000 genomes]
rs34683252	0.83[ASN][1000 genomes]
rs34813132	0.83[ASN][1000 genomes]
rs34831887	0.83[ASN][1000 genomes]
rs35044703	0.83[ASN][1000 genomes]
rs35388070	0.83[ASN][1000 genomes]
rs35696888	0.83[ASN][1000 genomes]
rs35767068	0.83[ASN][1000 genomes]
rs62391237	0.81[ASN][1000 genomes]
rs62391271	0.83[ASN][1000 genomes]
rs62391272	0.83[ASN][1000 genomes]
rs62391297	0.80[ASN][1000 genomes]
rs71587998	0.86[ASN][1000 genomes]
rs71592877	0.80[ASN][1000 genomes]
rs7349831	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599699	chr5:128172808-128259451	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv462443	chr5:128172808-128298437	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv599700	chr5:128172808-128298437	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12189398	SLC12A2	cis	cerebellum	SCAN
rs12189398	SLC27A6	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128193400-128199800	Weak transcription	Fetal Stomach	stomach
2	chr5:128194200-128205600	Weak transcription	Fetal Heart	heart

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