Variant report

Variant	rs1514733
Chromosome Location	chr4:91664023-91664024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10516878	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs11097267	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs1114878	0.81[CEU][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.85[YRI][hapmap]
rs11727543	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs11930189	0.85[YRI][hapmap]
rs11932857	0.85[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs11934481	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs11942486	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs12510662	0.93[LWK][hapmap];0.92[YRI][hapmap]
rs1377918	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs1377919	0.84[CHB][hapmap]
rs1399417	0.84[LWK][hapmap]
rs1399418	0.84[LWK][hapmap]
rs1399419	0.81[CEU][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs1606752	0.81[YRI][hapmap]
rs17017439	0.91[CEU][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap]
rs17017488	0.92[YRI][hapmap]
rs17184632	0.96[YRI][hapmap];0.80[AFR][1000 genomes]
rs1828884	0.85[YRI][hapmap]
rs2085096	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs2123957	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2123960	0.85[CHB][hapmap]
rs2123961	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs2168076	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs2168077	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs3733451	0.84[LWK][hapmap]
rs4571297	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs59614972	0.84[AFR][1000 genomes]
rs6532239	0.93[LWK][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes]
rs6532246	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs6532248	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs6532249	0.85[CHB][hapmap]
rs6815961	0.81[CHB][hapmap]
rs6821319	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs6822836	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs6835028	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs6843193	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6843367	0.90[CHB][hapmap]
rs6850783	0.81[CEU][hapmap];0.92[YRI][hapmap]
rs7438052	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7658990	0.96[YRI][hapmap]
rs7665447	0.92[YRI][hapmap]
rs7666611	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs7666834	0.90[CHB][hapmap]
rs7698270	0.90[CHB][hapmap];0.81[JPT][hapmap]

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	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv534470	chr4:91342219-91842807	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv428766	chr4:91618397-91768647	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1514733	HERC6	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91663800-91668200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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