Variant report

Variant	rs7583194
Chromosome Location	chr2:30608160-30608161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10514770	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11127273	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1252616	0.86[EUR][1000 genomes]
rs1252617	0.83[EUR][1000 genomes]
rs1252618	0.85[EUR][1000 genomes]
rs12993465	0.86[EUR][1000 genomes]
rs13000021	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13012193	0.86[EUR][1000 genomes]
rs13033921	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2030744	0.86[EUR][1000 genomes]
rs35909231	0.86[EUR][1000 genomes]
rs4519571	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6548012	0.93[EUR][1000 genomes]
rs6548013	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7572690	0.96[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7583844	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7593766	0.87[EUR][1000 genomes]
rs829588	0.80[AFR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829590	0.86[EUR][1000 genomes]
rs829610	0.89[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap];0.83[EUR][1000 genomes]
rs829611	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs829612	0.92[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.84[EUR][1000 genomes]
rs829613	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs829614	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs9917125	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
4	esv3527832	chr2:30606448-30609846	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3514776	chr2:30606898-30610296	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3514777	chr2:30606898-30610296	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3459510	chr2:30607542-30608719	Enhancers	n/a	n/a	inside rSNPs	diseases
8	esv3527833	chr2:30607576-30608616	Enhancers	n/a	n/a	inside rSNPs	diseases
9	esv3527835	chr2:30607579-30608575	Enhancers	n/a	n/a	inside rSNPs	diseases
10	esv3527834	chr2:30607607-30608600	Enhancers	n/a	n/a	inside rSNPs	diseases
11	esv3459511	chr2:30607672-30608535	Enhancers	n/a	n/a	inside rSNPs	diseases
12	esv3527836	chr2:30607672-30608535	Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7583194	PREB	cis	parietal	SCAN
rs7583194	DAB2IP	trans	cerebellum	SCAN
rs7583194	CHCHD3	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30608000-30608800	Enhancers	Fetal Intestine Large	intestine

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