Variant report

Variant	rs7828513
Chromosome Location	chr8:3432054-3432055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10102248	0.84[CHD][hapmap];0.85[JPT][hapmap]
rs10107216	0.92[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs1010814	0.88[CEU][hapmap];0.85[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1010815	0.89[ASN][1000 genomes]
rs10113644	0.80[CEU][hapmap];0.87[YRI][hapmap]
rs1014048	0.84[CEU][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12548212	0.90[JPT][hapmap]
rs1564571	1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs17323204	0.92[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17395098	0.92[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28418956	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55890168	0.81[EUR][1000 genomes]
rs9314501	0.80[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025209	chr8:3067655-3754882	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1026998	chr8:3102679-3593264	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034076	chr8:3168033-3989947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv539351	chr8:3168033-3989947	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017164	chr8:3174168-4026811	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv539352	chr8:3174168-4026811	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1018218	chr8:3180287-4089011	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1028926	chr8:3318340-3667389	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv539353	chr8:3318340-3667389	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv427813	chr8:3339350-3501515	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7828513	ZNF800	trans	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3428000-3432200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:3428200-3432200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:3430000-3433000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:3431000-3432200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:3431800-3432200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:3431800-3433200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:3432000-3432200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr8:3432000-3432600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:3432000-3433000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:3432000-3433000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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