Variant report

Variant	rs7519354
Chromosome Location	chr1:216096735-216096736
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:216074148..216076361-chr1:216095945..216097461,2	K562	blood:
2	chr1:216096007..216097602-chr1:216102909..216104779,2	K562	blood:
3	chr1:216095323..216098223-chr1:216099775..216101412,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10495010	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11577499	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11587674	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17642190	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17642493	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs503150	0.88[GIH][hapmap];0.82[TSI][hapmap]
rs528102	0.88[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs533545	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs571005	0.84[CEU][hapmap]
rs592462	0.88[GIH][hapmap];0.82[TSI][hapmap]
rs61486625	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61828257	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61828258	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61828480	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs643311	0.83[CEU][hapmap]
rs658619	0.83[CEU][hapmap]
rs6659289	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs683804	0.88[GIH][hapmap];0.82[TSI][hapmap]
rs7546633	0.80[ASW][hapmap];1.00[CEU][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs7550915	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949671	chr1:215942740-216120815	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv832548	chr1:215987089-216175724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv428599	chr1:216086224-216267211	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7519354	USH2A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216096400-216097000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:216096600-216097000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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