Variant report

Variant	rs10147622
Chromosome Location	chr14:26423479-26423480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11159589	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12434661	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12893923	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1956616	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2447135	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038014	chr14:26191545-26439394	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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
3	nsv456170	chr14:26423479-26478611	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv470624	chr14:26423479-26478611	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	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
rs10147622	PSME2	cis	parietal	SCAN
rs10147622	ZNF219	cis	cerebellum	SCAN
rs10147622	SNORD8	cis	parietal	SCAN
rs10147622	NGDN	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:26422200-26423600	Enhancers	Rectal Smooth Muscle	rectum
2	chr14:26422400-26423600	Enhancers	Colon Smooth Muscle	Colon
3	chr14:26422400-26426200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:26422800-26425800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:26423400-26424000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:26423400-26424200	Enhancers	HUVEC	blood vessel

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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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