Variant report

Variant	rs2835382
Chromosome Location	chr21:37900377-37900378
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11909578	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13046506	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13049189	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13049736	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1892908	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1892909	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2015187	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2187304	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2835383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2835388	0.86[EUR][1000 genomes]
rs2835389	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs386394	0.82[JPT][hapmap]
rs412510	0.92[ASW][hapmap];0.82[JPT][hapmap];0.81[LWK][hapmap]
rs420352	0.82[JPT][hapmap]
rs430159	0.82[JPT][hapmap]
rs431741	0.82[JPT][hapmap]
rs432137	0.82[JPT][hapmap]
rs438492	0.82[JPT][hapmap]
rs4817806	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4817807	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4817808	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6517361	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs70940557	0.86[EUR][1000 genomes]
rs8128229	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs876780	0.82[JPT][hapmap]
rs914148	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9305590	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9305591	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9305592	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9305594	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9305595	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9653721	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9980855	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9981041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2835382	PIGP	cis	parietal	SCAN
rs2835382	DNAJC28	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37895800-37902600	Weak transcription	GM12878-XiMat	blood
2	chr21:37897000-37911600	Weak transcription	Pancreas	Pancrea
3	chr21:37897600-37902200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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