Variant report

Variant	rs6504760
Chromosome Location	chr17:50264324-50264325
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11867439	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11869749	1.00[CHD][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs1872724	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6504763	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9303597	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9910955	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492317	chr17:50067819-50774475	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6504760	NFE2L1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50260200-50264800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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