Variant report

Variant	rs4875713
Chromosome Location	chr8:3325928-3325929
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12548247	0.90[JPT][hapmap]
rs13270935	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4305921	0.81[JPT][hapmap]
rs4333624	0.90[JPT][hapmap]
rs4875231	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4875710	1.00[GIH][hapmap];0.81[JPT][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs4875712	1.00[ASW][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4875714	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4875715	0.92[CHB][hapmap];0.97[ASN][1000 genomes]
rs4875716	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4875717	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4875718	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4875719	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61007163	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7005502	0.90[TSI][hapmap]
rs7812389	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1034838	chr8:3307014-3413573	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1028613	chr8:3315493-3339898	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv465344	chr8:3319748-3333127	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
13	nsv609737	chr8:3319748-3333127	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3323200-3326000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3323200-3326000	Weak transcription	Brain Anterior Caudate	brain
3	chr8:3323400-3326000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:3323400-3326000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:3324600-3328200	Enhancers	Brain Angular Gyrus	brain
6	chr8:3325400-3326200	Enhancers	Brain Hippocampus Middle	brain
7	chr8:3325600-3326800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:3325800-3326200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:3325800-3326200	Enhancers	Brain Substantia Nigra	brain
10	chr8:3325800-3326400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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