Variant report

Variant	rs333917
Chromosome Location	chr17:67351459-67351460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1154017	0.93[EUR][1000 genomes]
rs1222550	0.84[EUR][1000 genomes]
rs1222599	0.93[EUR][1000 genomes]
rs1642220	0.91[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[TSI][hapmap];0.93[EUR][1000 genomes]
rs1662694	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182834	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430763	0.97[ASN][1000 genomes]
rs2441360	0.92[EUR][1000 genomes]
rs2592208	0.91[CHB][hapmap]
rs2592209	0.86[CHB][hapmap]
rs333911	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333912	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs333913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333914	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333915	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333918	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333919	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs333921	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs474246	0.86[ASN][1000 genomes]
rs475278	0.87[ASN][1000 genomes]
rs489695	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491516	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs497012	0.89[ASN][1000 genomes]
rs506726	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs515379	0.81[MEX][hapmap]
rs517988	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs536108	0.84[ASN][1000 genomes]
rs550879	0.88[ASN][1000 genomes]
rs569063	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575988	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6501323	0.91[CHB][hapmap]
rs817103	0.89[ASN][1000 genomes]
rs817129	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs817130	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs817543	0.82[CHB][hapmap]
rs817546	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv522420	chr17:67345358-67357573	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs333917	TEX2	cis	parietal	SCAN

Chromatin state (count:2 , 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	chr17:67347400-67352800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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