Variant report

Variant	rs17189154
Chromosome Location	chr2:53294311-53294312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10445891	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10445934	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10445935	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496013	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902991	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424964	1.00[ASN][1000 genomes]
rs1424966	1.00[ASN][1000 genomes]
rs17189147	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189168	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17189189	1.00[ASN][1000 genomes]
rs17267700	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17267741	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17267748	1.00[ASN][1000 genomes]
rs55635428	1.00[ASN][1000 genomes]
rs56094713	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095011	0.95[EUR][1000 genomes]
rs56208689	1.00[ASN][1000 genomes]
rs56276721	1.00[ASN][1000 genomes]
rs56306560	1.00[ASN][1000 genomes]
rs56327707	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57712347	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59769996	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61128889	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61570270	0.81[AFR][1000 genomes]
rs66492582	1.00[ASN][1000 genomes]
rs66516773	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66795271	1.00[ASN][1000 genomes]
rs6717549	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6756589	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67942596	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72797218	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797229	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569736	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572883	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575959	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595912	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602050	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608261	1.00[ASN][1000 genomes]
rs9677395	1.00[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	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv581982	chr2:53256694-53295106	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
4	nsv874141	chr2:53263644-53352630	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53293800-53294800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:53294000-53294400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:53294000-53294600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:53294200-53294600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:53294200-53294800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:53294200-53294800	Enhancers	Fetal Heart	heart
7	chr2:53294200-53295000	Enhancers	Fetal Lung	lung

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