Variant report

Variant	rs2219939
Chromosome Location	chr15:79029723-79029724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11072787	0.90[CEU][hapmap]
rs11072793	0.86[EUR][1000 genomes]
rs11072794	0.86[EUR][1000 genomes]
rs11072799	0.97[EUR][1000 genomes]
rs11072800	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11629639	0.92[EUR][1000 genomes]
rs11629824	0.86[EUR][1000 genomes]
rs11632672	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs11633152	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11633170	0.86[EUR][1000 genomes]
rs11634628	0.86[EUR][1000 genomes]
rs11852887	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11852909	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856441	0.96[EUR][1000 genomes]
rs12148817	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12899201	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12899940	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12901228	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12904489	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12906022	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12906165	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12906835	0.82[ASN][1000 genomes]
rs12906847	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12906977	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12907207	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12907432	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12907536	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12909668	0.88[CHB][hapmap]
rs12912245	0.85[ASN][1000 genomes]
rs12913779	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12917502	0.81[AMR][1000 genomes]
rs1383634	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1383635	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1809412	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1809414	0.97[EUR][1000 genomes]
rs1814880	0.92[EUR][1000 genomes]
rs1825086	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1904920	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2017091	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2017297	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2622821	0.80[AMR][1000 genomes]
rs4887074	0.85[CEU][hapmap]
rs4887078	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4887091	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4887092	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71402966	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71402967	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7176070	0.85[EUR][1000 genomes]
rs7182567	0.95[CEU][hapmap];0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7182694	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7182993	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs755998	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8030090	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8030335	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8043123	0.84[CEU][hapmap]
rs899997	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs9888691	0.88[EUR][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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv974606	chr15:78996783-79048337	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv977797	chr15:79029383-79031049	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Coronary artery disease or ischemic stroke	24262325	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79028000-79030400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:79029600-79029800	Enhancers	Spleen	Spleen

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