Variant report

Variant	rs8008994
Chromosome Location	chr14:79643268-79643269
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11159397	0.90[JPT][hapmap]
rs11625020	0.90[JPT][hapmap];0.85[YRI][hapmap]
rs11625721	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap]
rs11625723	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap]
rs11845101	0.88[JPT][hapmap]
rs12880228	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs1531631	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs1531632	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs1531633	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs1531634	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs17108805	0.90[JPT][hapmap]
rs17510215	0.81[CHD][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];0.85[YRI][hapmap]
rs17595359	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17595590	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2061920	0.90[JPT][hapmap]
rs2061923	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2370930	0.91[CEU][hapmap]
rs2370933	0.91[ASW][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.88[LWK][hapmap];0.80[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3921885	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs61992527	0.83[ASN][1000 genomes]
rs61992556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61992557	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995405	0.95[ASN][1000 genomes]
rs6574499	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs8004250	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs8006322	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.88[LWK][hapmap];0.80[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs8007278	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8009200	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8009489	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8011043	0.86[CEU][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8011958	0.80[CEU][hapmap];0.85[TSI][hapmap]
rs8015611	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs8016731	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8017544	1.00[CHB][hapmap]
rs8018241	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs8019477	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8021706	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs8021953	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1040837	chr14:79583862-79711565	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8008994	VASH1	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79642200-79644200	Enhancers	Fetal Brain Male	brain
2	chr14:79642200-79644200	Enhancers	Fetal Lung	lung

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