Variant report

Variant	rs11127273
Chromosome Location	chr2:30602161-30602162
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10514770	0.85[EUR][1000 genomes]
rs1252616	0.84[EUR][1000 genomes]
rs1252617	0.81[EUR][1000 genomes]
rs1252618	0.83[EUR][1000 genomes]
rs12993465	0.84[EUR][1000 genomes]
rs13000021	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13012193	0.84[EUR][1000 genomes]
rs13033921	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2030744	0.84[EUR][1000 genomes]
rs35909231	0.84[EUR][1000 genomes]
rs4519571	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6548012	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6548013	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7572690	0.94[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7583194	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7583844	0.92[EUR][1000 genomes]
rs7593766	0.85[EUR][1000 genomes]
rs829588	0.97[EUR][1000 genomes]
rs829590	0.84[EUR][1000 genomes]
rs829610	0.89[CEU][hapmap];0.89[GIH][hapmap];0.81[EUR][1000 genomes]
rs829611	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs829612	0.92[CEU][hapmap];0.91[GIH][hapmap];0.82[EUR][1000 genomes]
rs829613	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs829614	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs9917125	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv873769	chr2:30585638-30625264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11127273	PREB	cis	parietal	SCAN
rs11127273	CHCHD3	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30585600-30605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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