Variant report

Variant	rs12564947
Chromosome Location	chr1:221743047-221743048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1026515	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10495169	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10495170	0.81[EUR][1000 genomes]
rs10779441	0.81[EUR][1000 genomes]
rs10779442	0.81[EUR][1000 genomes]
rs10779443	0.81[EUR][1000 genomes]
rs11118755	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11118757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118758	0.80[EUR][1000 genomes]
rs11118759	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118764	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11118772	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11118774	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12021531	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12025803	0.82[AMR][1000 genomes]
rs12026855	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12032922	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs12039969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046891	0.82[AMR][1000 genomes]
rs12117680	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12118111	0.80[EUR][1000 genomes]
rs12142838	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1338077	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1538249	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17010241	0.82[AMR][1000 genomes]
rs1933266	0.81[EUR][1000 genomes]
rs1933267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009200	0.81[EUR][1000 genomes]
rs4129174	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs925944	0.81[EUR][1000 genomes]
rs9308400	0.81[EUR][1000 genomes]
rs953400	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs9658820	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9658836	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9661910	0.81[EUR][1000 genomes]
rs9662660	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9725124	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9727407	0.81[EUR][1000 genomes]
rs9728231	0.81[EUR][1000 genomes]
rs9729646	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1009838	chr1:221692621-221773945	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv535301	chr1:221692621-221773945	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1809909	chr1:221740539-221754260	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2760080	chr1:221742890-221763387	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221729800-221748600	Weak transcription	Left Ventricle	heart
2	chr1:221729800-221748800	Weak transcription	Pancreas	Pancrea
3	chr1:221739400-221747000	Weak transcription	Adipose Nuclei	Adipose
4	chr1:221741400-221746600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:221741600-221746600	Weak transcription	Psoas Muscle	Psoas
6	chr1:221741600-221746600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:221741600-221746800	Weak transcription	Fetal Heart	heart

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