Variant report

Variant	rs11119431
Chromosome Location	chr1:210354586-210354587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10779526	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11119413	0.81[ASN][1000 genomes]
rs11119414	0.81[ASN][1000 genomes]
rs2046849	0.80[ASN][1000 genomes]
rs2200970	0.81[ASN][1000 genomes]
rs2485887	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2485888	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2485889	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2485893	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2487909	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2494176	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4844948	0.82[ASN][1000 genomes]
rs4844971	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs846559	0.83[MEX][hapmap]

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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11119431	ARHGEF6	trans	parietal	SCAN
rs11119431	LOC148696	cis	parietal	SCAN
rs11119431	DYRK3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210339400-210361200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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