Variant report

Variant	rs1399520
Chromosome Location	chr14:62682268-62682269
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10130514	0.83[ASN][1000 genomes]
rs10142690	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10873145	0.84[ASN][1000 genomes]
rs11158377	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12437231	0.88[ASN][1000 genomes]
rs12880740	0.83[ASN][1000 genomes]
rs4357857	0.82[AMR][1000 genomes];0.88[ASN][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	esv2422467	chr14:62572710-62734332	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv902009	chr14:62627780-62730395	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	nsv1044114	chr14:62659208-62705664	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	nsv1037586	chr14:62659208-62708775	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	nsv1037277	chr14:62662602-62786567	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1399520	GPR135	cis	parietal	SCAN
rs1399520	TOMM20L	cis	cerebellum	SCAN
rs1399520	GPHB5	cis	cerebellum	SCAN
rs1399520	PSMA3	cis	cerebellum	SCAN
rs1399520	AARS	trans	cerebellum	SCAN
rs1399520	SYNE2	cis	parietal	SCAN
rs1399520	FLJ43390	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:62677800-62682400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:62678600-62683200	Enhancers	Hela-S3	cervix
3	chr14:62680200-62684200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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