Variant report

Variant	rs1491488
Chromosome Location	chr14:80604494-80604495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1491490	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1491499	0.88[ASN][1000 genomes]
rs1491500	0.88[ASN][1000 genomes]
rs1491501	0.88[ASN][1000 genomes]
rs170407	0.88[ASN][1000 genomes]
rs170408	0.88[ASN][1000 genomes]
rs17110277	0.80[ASN][1000 genomes]
rs17110328	0.88[ASN][1000 genomes]
rs17110368	0.89[EUR][1000 genomes]
rs2098406	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs224996	0.85[ASN][1000 genomes]
rs224997	0.88[ASN][1000 genomes]
rs224999	0.88[ASN][1000 genomes]
rs225001	0.88[ASN][1000 genomes]
rs225003	0.88[ASN][1000 genomes]
rs225004	0.88[ASN][1000 genomes]
rs54566	0.88[ASN][1000 genomes]
rs56240413	0.88[ASN][1000 genomes]
rs61991165	0.80[ASN][1000 genomes]
rs61991166	0.80[ASN][1000 genomes]
rs7152836	0.88[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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1491488	C14orf118	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80602000-80604600	Enhancers	HMEC	breast

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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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