Variant report

Variant	rs12142838
Chromosome Location	chr1:221735276-221735277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221725072..221727435-chr1:221733629..221736016,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10454450	0.80[AMR][1000 genomes]
rs10495169	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10495170	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10779441	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10779442	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10779443	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11118753	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11118755	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11118757	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11118758	0.83[AMR][1000 genomes]
rs11118759	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11118764	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11118772	0.90[EUR][1000 genomes]
rs11118774	0.88[EUR][1000 genomes]
rs12021531	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12026855	0.83[EUR][1000 genomes]
rs12032922	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12039969	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12117680	0.90[EUR][1000 genomes]
rs12118111	0.83[AMR][1000 genomes]
rs12127875	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12564947	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1338077	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1538249	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1538250	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1933266	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1933267	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2009200	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4129174	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs925944	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9308400	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs953400	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9658820	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9658836	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9661910	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9662660	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9725124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9727407	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9728231	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9729646	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221729800-221736600	Weak transcription	Psoas Muscle	Psoas
2	chr1:221729800-221748600	Weak transcription	Left Ventricle	heart
3	chr1:221729800-221748800	Weak transcription	Pancreas	Pancrea
4	chr1:221730600-221736000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:221731200-221736000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:221733000-221735400	Weak transcription	Liver	Liver

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