Variant report

Variant	rs2126997
Chromosome Location	chr16:80133691-80133692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10871382	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11150243	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12149074	0.82[CEU][hapmap]
rs1382387	0.88[CEU][hapmap]
rs1478512	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2045927	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2126996	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2169805	0.94[EUR][1000 genomes]
rs4889076	0.92[CEU][hapmap]
rs6564728	0.80[MEX][hapmap]
rs7185663	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7197561	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv906995	chr16:80094975-80166677	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	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
rs2126997	VAT1L	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80127000-80137200	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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