Variant report

Variant	rs1956616
Chromosome Location	chr14:26446421-26446422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10147622	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11159589	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12434661	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12893923	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2447135	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564080	chr14:26412416-26474694	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv456170	chr14:26423479-26478611	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv470624	chr14:26423479-26478611	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv564081	chr14:26423479-26478611	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1956616	NGDN	cis	parietal	SCAN
rs1956616	ZNF219	cis	cerebellum	SCAN
rs1956616	SNORD8	cis	parietal	SCAN
rs1956616	PSME2	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:26445600-26447200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:26445800-26447400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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