Variant report

Variant	rs719829
Chromosome Location	chr5:124581782-124581783
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10463490	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11960564	0.95[ASN][1000 genomes]
rs12055008	0.85[ASN][1000 genomes]
rs12521045	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1439605	0.92[ASN][1000 genomes]
rs1530450	0.95[CEU][hapmap];0.82[GIH][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs1595712	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152482	0.95[ASN][1000 genomes]
rs17152509	1.00[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs17152529	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2165154	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4587073	0.95[ASN][1000 genomes]
rs6866176	0.93[ASN][1000 genomes]
rs732776	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7731283	0.92[ASN][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	nsv882823	chr5:124569471-124639468	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs719829	CLEC11A	trans	brain	seeQTL
rs719829	ZNF330	trans	brain	seeQTL
rs719829	DGCR6L	trans	brain	seeQTL
rs719829	IL20RA	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124546600-124585200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124581400-124588200	Weak transcription	H1 Cell Line	embryonic stem cell

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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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