Variant report

Variant	rs517988
Chromosome Location	chr17:67343619-67343620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1154017	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1222550	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1222599	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1642220	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1662694	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs182834	0.92[EUR][1000 genomes]
rs2441360	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs333911	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs333912	0.92[EUR][1000 genomes]
rs333913	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs333914	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs333915	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs333916	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs333917	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs333918	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs333919	0.94[EUR][1000 genomes]
rs333920	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs333921	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs482524	0.80[AMR][1000 genomes]
rs489695	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs491516	0.88[EUR][1000 genomes]
rs506726	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs518132	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs569063	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs575988	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs817129	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs817130	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv3517126	chr17:67343157-67349955	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	esv3517131	chr17:67343607-67349805	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67339400-67355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr17:67343400-67344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr17:67343400-67346200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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