Variant report

Variant	rs1511382
Chromosome Location	chr3:140897551-140897552
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1010717	0.87[EUR][1000 genomes]
rs10470445	0.90[EUR][1000 genomes]
rs1154783	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1154784	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1154785	0.92[ASN][1000 genomes]
rs11708182	0.92[ASN][1000 genomes]
rs12494486	0.92[ASN][1000 genomes]
rs12494491	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12494551	0.92[ASN][1000 genomes]
rs13080353	0.84[EUR][1000 genomes]
rs13092595	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1564257	0.87[EUR][1000 genomes]
rs1567560	0.89[EUR][1000 genomes]
rs1871279	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1912731	0.92[ASN][1000 genomes]
rs2127098	0.88[ASN][1000 genomes]
rs2871782	0.93[ASN][1000 genomes]
rs4308250	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4683397	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683566	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683567	0.92[ASN][1000 genomes]
rs4683569	0.83[ASN][1000 genomes]
rs4683570	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4683572	0.87[EUR][1000 genomes]
rs7632817	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7635370	0.92[ASN][1000 genomes]
rs899344	0.94[ASN][1000 genomes]
rs9289625	0.91[CEU][hapmap];0.80[TSI][hapmap]
rs9289626	0.95[CEU][hapmap]
rs9860331	0.85[EUR][1000 genomes]
rs995783	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877550	chr3:140867094-140933231	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1511382	ACPL2	cis	multi-tissue	Pritchard
rs1511382	ACPL2	cis	parietal	SCAN
rs1511382	MRPS22	cis	parietal	SCAN
rs1511382	XRN1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140888200-140897600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:140896200-140898200	Enhancers	Fetal Muscle Leg	muscle
3	chr3:140897400-140898200	Enhancers	Fetal Muscle Trunk	muscle

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