Variant report

Variant	rs12219130
Chromosome Location	chr10:53851287-53851288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10508969	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10762579	0.80[ASN][1000 genomes]
rs10823983	1.00[AFR][1000 genomes]
rs10824033	0.86[ASN][1000 genomes]
rs10824034	0.86[ASN][1000 genomes]
rs10824038	0.84[AMR][1000 genomes]
rs10824048	0.82[ASN][1000 genomes]
rs10824050	0.83[ASN][1000 genomes]
rs11000791	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11000800	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11000815	0.86[ASN][1000 genomes]
rs11001232	1.00[AFR][1000 genomes]
rs11001441	1.00[AFR][1000 genomes]
rs12412155	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12414927	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16926521	0.93[ASN][1000 genomes]
rs1904011	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1904016	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1904019	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4526728	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57233855	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58339586	0.83[ASN][1000 genomes]
rs72634653	0.92[ASN][1000 genomes]
rs72634654	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787311	1.00[AFR][1000 genomes]
rs72787319	1.00[AFR][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	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2750961	chr10:53726294-54010594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv467198	chr10:53843374-53923411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv550875	chr10:53843374-53923411	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53839800-53852200	Weak transcription	Psoas Muscle	Psoas
2	chr10:53846800-53859800	Weak transcription	Aorta	Aorta
3	chr10:53847800-53851600	Weak transcription	H1 Cell Line	embryonic stem cell

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