Variant report

Variant	rs953370
Chromosome Location	chr19:38382328-38382329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10406856	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10418133	0.83[EUR][1000 genomes]
rs10421572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10426553	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10426712	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17306795	1.00[CEU][hapmap]
rs2382622	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs241951	0.84[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap]
rs4802132	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4802133	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4802137	0.83[EUR][1000 genomes]
rs56851463	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57268445	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6508747	0.83[EUR][1000 genomes]
rs6508750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7245957	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8100684	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8101131	0.83[EUR][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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs953370	AC012309.5	cis	Artery Tibial	GTEx
rs953370	PAFAH1B3	cis	cerebellum	SCAN
rs953370	AKT2	cis	parietal	SCAN
rs953370	DMPK	cis	parietal	SCAN
rs953370	ZNF226	cis	cerebellum	SCAN
rs953370	AC012309.5	cis	Thyroid	GTEx
rs953370	PPP5C	cis	parietal	SCAN
rs953370	PHLDB3	cis	cerebellum	SCAN
rs953370	AC012309.5	cis	Heart Left Ventricle	GTEx
rs953370	IRGQ	cis	parietal	SCAN
rs953370	PLEKHG2	cis	cerebellum	SCAN
rs953370	CEACAM3	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

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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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