Variant report

Variant	rs2221298
Chromosome Location	chr14:79510587-79510588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10139460	0.89[CEU][hapmap]
rs10141828	0.89[CEU][hapmap]
rs10146180	0.89[CEU][hapmap]
rs10147558	0.89[CEU][hapmap]
rs10147940	0.85[CEU][hapmap]
rs10150011	0.82[CEU][hapmap]
rs10151590	0.84[CEU][hapmap]
rs11159395	0.89[CEU][hapmap]
rs11625343	0.89[CEU][hapmap]
rs11627661	0.88[CEU][hapmap]
rs11627905	0.89[CEU][hapmap]
rs12147468	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs12147740	0.89[CEU][hapmap];0.81[AMR][1000 genomes]
rs12323794	0.89[CEU][hapmap]
rs12431671	0.81[CEU][hapmap]
rs12434809	0.88[CEU][hapmap]
rs12435865	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs12586394	0.92[CEU][hapmap]
rs12881434	0.85[CEU][hapmap]
rs12887850	0.89[CEU][hapmap]
rs12894123	0.85[CEU][hapmap]
rs12895916	0.89[CEU][hapmap]
rs1547533	0.89[CEU][hapmap]
rs1566675	0.89[CEU][hapmap]
rs17108575	0.88[CEU][hapmap]
rs1875595	0.88[CEU][hapmap]
rs1995411	0.89[CEU][hapmap]
rs2035284	0.85[CEU][hapmap]
rs2062740	0.89[CEU][hapmap]
rs2062741	0.89[CEU][hapmap]
rs2062744	0.89[CEU][hapmap]
rs2062746	0.89[CEU][hapmap]
rs2088966	0.88[CEU][hapmap]
rs2088967	0.89[CEU][hapmap]
rs2202168	0.89[CEU][hapmap]
rs2202171	0.88[CEU][hapmap]
rs2202175	0.81[CEU][hapmap]
rs2221297	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2370895	0.84[CEU][hapmap]
rs2620398	0.85[CEU][hapmap]
rs31434	1.00[YRI][hapmap]
rs4899732	0.85[CEU][hapmap]
rs4903816	0.89[CEU][hapmap]
rs4903819	0.89[CEU][hapmap]
rs4903820	0.89[CEU][hapmap]
rs4903823	0.89[CEU][hapmap]
rs4903830	0.88[CEU][hapmap]
rs4903833	0.85[CEU][hapmap]
rs61992500	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6574478	0.89[CEU][hapmap]
rs6574480	0.88[CEU][hapmap]
rs6574492	0.89[CEU][hapmap]
rs6574493	0.89[CEU][hapmap]
rs7149325	0.83[CEU][hapmap]
rs7155818	0.89[CEU][hapmap]
rs7157779	0.89[CEU][hapmap]
rs7161610	0.85[CEU][hapmap]
rs8004582	0.85[CEU][hapmap]
rs8005334	0.85[CEU][hapmap]
rs8006615	0.89[CEU][hapmap]
rs8006983	0.89[CEU][hapmap]
rs8007813	0.89[CEU][hapmap]
rs8008393	0.89[CEU][hapmap]
rs8009383	0.85[CEU][hapmap]
rs8010365	0.89[CEU][hapmap]
rs8010673	0.89[CEU][hapmap]
rs8011832	0.89[CEU][hapmap]
rs8016756	0.88[CEU][hapmap]
rs8017018	0.89[CEU][hapmap]
rs8020811	0.89[CEU][hapmap]
rs872483	0.81[CEU][hapmap]
rs9323670	0.89[CEU][hapmap]
rs9323671	0.89[CEU][hapmap]
rs937648	0.89[CEU][hapmap]
rs997842	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	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
3	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	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
5	nsv1046464	chr14:79478352-79514789	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv1036542	chr14:79478352-79518230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
7	nsv948724	chr14:79484233-79614043	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv565247	chr14:79508316-79555651	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2221298	VASH1	cis	cerebellum	SCAN
rs2221298	C14orf148	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79507400-79511200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:79509800-79511200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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