Variant report

Variant	rs10514999
Chromosome Location	chr17:50300030-50300031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1004311	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11867439	0.89[EUR][1000 genomes]
rs11869749	1.00[GIH][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs1503047	0.81[LWK][hapmap]
rs17609084	0.82[EUR][1000 genomes]
rs1825733	0.89[EUR][1000 genomes]
rs1825734	0.87[EUR][1000 genomes]
rs1872724	0.89[EUR][1000 genomes]
rs7214564	0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9303597	0.89[EUR][1000 genomes]
rs9902514	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9910955	0.83[AMR][1000 genomes];0.88[EUR][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	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
2	nsv1064193	chr17:50270352-50320667	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1064285	chr17:50290372-50507829	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv543385	chr17:50290372-50507829	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10514999	NFE2L1	cis	parietal	SCAN
rs10514999	PDK2	cis	cerebellum	SCAN
rs10514999	UBE2Z	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50299200-50300200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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Input of quick search could be:

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

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