Variant report

Variant	rs2511619
Chromosome Location	chr8:105303132-105303133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10102063	0.87[EUR][1000 genomes]
rs1060441	0.82[EUR][1000 genomes]
rs2441815	0.82[EUR][1000 genomes]
rs2441818	0.82[EUR][1000 genomes]
rs2441819	0.82[EUR][1000 genomes]
rs2441821	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2441823	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2441824	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2441826	0.81[EUR][1000 genomes]
rs2441827	0.81[EUR][1000 genomes]
rs2441832	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2441838	0.90[EUR][1000 genomes]
rs2441843	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2441848	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2441850	0.87[EUR][1000 genomes]
rs2441851	0.86[EUR][1000 genomes]
rs2441895	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2441896	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511580	0.81[EUR][1000 genomes]
rs2511585	0.82[EUR][1000 genomes]
rs2511587	0.82[EUR][1000 genomes]
rs2511590	0.81[EUR][1000 genomes]
rs2511594	0.81[EUR][1000 genomes]
rs2511595	0.82[EUR][1000 genomes]
rs2511597	0.82[EUR][1000 genomes]
rs2511602	0.81[EUR][1000 genomes]
rs2511603	0.81[EUR][1000 genomes]
rs2511605	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511606	0.85[EUR][1000 genomes]
rs2511609	0.88[EUR][1000 genomes]
rs2511625	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511626	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2514629	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2514630	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2514631	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2514632	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2514640	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2514645	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2514652	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2514659	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2514672	0.88[EUR][1000 genomes]
rs4474002	0.85[ASN][1000 genomes]
rs750432	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3440633	chr8:105297684-105304611	Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3450089	chr8:105297923-105305073	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105297400-105305800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:105299400-105305600	Weak transcription	H9 Cell Line	embryonic stem cell

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