Variant report

Variant	rs2064249
Chromosome Location	chr6:144390273-144390274
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2064247	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2064248	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6921460	0.95[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs6929818	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs763773	0.95[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs7738767	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7756456	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9496852	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9496857	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.91[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	nsv886738	chr6:144387698-144428387	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2064249	PLAGL1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144386400-144408800	Weak transcription	Right Ventricle	heart
2	chr6:144388400-144396600	Weak transcription	K562	blood
3	chr6:144390200-144395000	Weak transcription	GM12878-XiMat	blood

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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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