Variant report

Variant	rs1573008
Chromosome Location	chr20:24061186-24061187
allele	A/G
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:12)

rs_ID	r²[population]
rs1012783	0.89[ASN][1000 genomes]
rs11699743	0.95[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.89[MKK][hapmap]
rs1884519	0.86[ASN][1000 genomes]
rs2070275	0.90[ASN][1000 genomes]
rs2103922	0.95[ASN][1000 genomes]
rs55921601	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6132695	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6132696	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6138201	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6138207	0.86[ASN][1000 genomes]
rs6138210	0.86[ASN][1000 genomes]
rs7270353	0.85[CEU][hapmap];0.86[TSI][hapmap]

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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1056491	chr20:23955040-24105080	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1573008	CST2	cis	cerebellum	SCAN
rs1573008	SAC3D1	trans	parietal	SCAN
rs1573008	INSM1	cis	parietal	SCAN
rs1573008	LOC200261	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24060200-24062200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:24060400-24062200	Enhancers	H1 BMP4 Derived Trophoblast 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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