Variant report

Variant	rs2464583
Chromosome Location	chr8:118212462-118212463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2464574	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2464576	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2464577	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2464578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2464579	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2464582	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2464586	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2464591	0.85[EUR][1000 genomes]
rs2464592	0.81[CHB][hapmap]
rs2464597	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2466290	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2466294	0.81[CHB][hapmap]
rs2466296	0.88[CEU][hapmap];0.81[CHB][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs2466297	0.88[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs2466298	0.81[CHB][hapmap]
rs2466299	0.88[CEU][hapmap];0.81[CHB][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs2466300	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs2466310	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2466313	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2466314	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2466315	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2466316	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2466321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2466323	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2466324	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1031711	chr8:118134669-118322562	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1027039	chr8:118143762-118460954	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2464583	EXT1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118210000-118215600	Enhancers	Pancreatic Islets	Pancreatic Islet

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