Variant report

Variant	rs8008494
Chromosome Location	chr14:62747664-62747665
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10129526	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1514937	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2883415	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3914462	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7160638	0.80[EUR][1000 genomes]
rs7494272	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8007070	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9323390	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902010	chr14:62627780-62801651	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1037277	chr14:62662602-62786567	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
3	nsv564889	chr14:62705334-62755733	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
4	nsv564890	chr14:62705334-62763273	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
5	nsv902011	chr14:62710865-62872487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1050818	chr14:62747610-62804856	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8008494	KCNH5	cis	parietal	SCAN
rs8008494	C14orf135	cis	parietal	SCAN
rs8008494	SLC38A6	cis	cerebellum	SCAN
rs8008494	ACTR10	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:62747400-62747800	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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