Variant report

Variant	rs2749928
Chromosome Location	chr6:131858779-131858780
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1206684	0.82[ASW][hapmap];1.00[YRI][hapmap]
rs1572211	0.82[ASN][1000 genomes]
rs17657364	1.00[YRI][hapmap]
rs2246372	0.82[ASN][1000 genomes]
rs2249537	0.81[ASN][1000 genomes]
rs2446218	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2446223	0.80[ASN][1000 genomes]
rs2483802	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2491208	0.82[ASN][1000 genomes]
rs2491209	1.00[YRI][hapmap]
rs2608900	0.86[ASN][1000 genomes]
rs2608901	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2608907	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2608909	0.90[ASN][1000 genomes]
rs2608910	0.90[ASN][1000 genomes]
rs2608923	0.87[ASN][1000 genomes]
rs2608924	0.83[ASN][1000 genomes]
rs2608925	0.83[ASN][1000 genomes]
rs2608929	0.88[ASN][1000 genomes]
rs2608931	0.83[ASN][1000 genomes]
rs2608932	0.83[ASN][1000 genomes]
rs2608933	0.83[ASN][1000 genomes]
rs2608936	0.82[ASN][1000 genomes]
rs2608967	0.80[ASN][1000 genomes]
rs2608968	0.80[ASN][1000 genomes]
rs2608969	0.82[ASN][1000 genomes]
rs2608970	0.82[ASN][1000 genomes]
rs2608971	0.82[ASN][1000 genomes]
rs2608972	0.82[ASN][1000 genomes]
rs2608973	0.82[ASN][1000 genomes]
rs2608974	0.82[ASN][1000 genomes]
rs2749927	0.81[ASN][1000 genomes]
rs2749929	0.95[ASN][1000 genomes]
rs2749930	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2749935	0.84[CEU][hapmap]
rs2749936	0.80[ASN][1000 genomes]
rs2749937	0.82[ASN][1000 genomes]
rs2781627	0.82[ASN][1000 genomes]
rs2781629	0.82[ASN][1000 genomes]
rs2781630	0.82[ASN][1000 genomes]
rs2781631	0.83[ASN][1000 genomes]
rs2781632	0.83[ASN][1000 genomes]
rs2781633	0.82[ASN][1000 genomes]
rs2781634	0.83[ASN][1000 genomes]
rs2781636	0.84[ASN][1000 genomes]
rs2781637	0.86[ASN][1000 genomes]
rs2781638	0.82[ASN][1000 genomes]
rs2781639	0.90[ASN][1000 genomes]
rs2781640	0.86[ASN][1000 genomes]
rs2781643	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2781646	0.90[ASN][1000 genomes]
rs2781647	0.90[ASN][1000 genomes]
rs2807279	0.80[ASN][1000 genomes]
rs2807280	0.82[ASN][1000 genomes]
rs2807281	0.82[ASN][1000 genomes]
rs2807282	0.82[ASN][1000 genomes]
rs2807283	0.82[ASN][1000 genomes]
rs2807284	0.82[ASN][1000 genomes]
rs2807286	0.82[ASN][1000 genomes]
rs2807287	0.82[ASN][1000 genomes]
rs2807288	0.82[ASN][1000 genomes]
rs2807289	0.82[ASN][1000 genomes]
rs2807290	0.82[ASN][1000 genomes]
rs36158725	0.82[ASN][1000 genomes]
rs3850240	0.83[ASN][1000 genomes]
rs4053133	0.82[ASN][1000 genomes]
rs4053139	0.82[ASN][1000 genomes]
rs6912764	0.82[ASN][1000 genomes]
rs6918117	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6927780	0.82[ASN][1000 genomes]
rs6927940	0.82[ASN][1000 genomes]
rs7743698	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9321298	0.82[ASN][1000 genomes]
rs9321301	0.83[ASN][1000 genomes]
rs9375816	0.82[ASN][1000 genomes]
rs9493004	0.85[ASN][1000 genomes]
rs9784795	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv2829868	chr6:131729859-131898208	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv886667	chr6:131807510-131876943	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv886668	chr6:131814865-131954797	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2749928	SLC2A12	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131856400-131859600	Weak transcription	HepG2	liver

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