Variant report

Variant	rs2351323
Chromosome Location	chr8:111927365-111927366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2054926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4275250	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4431617	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4562350	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4607651	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4610782	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6983354	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6983535	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7001001	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7001494	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7004627	1.00[AMR][1000 genomes]
rs7016851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7829578	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891294	chr8:111754075-112163801	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1032766	chr8:111779352-111995438	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1030494	chr8:111779352-112421812	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2754849	chr8:111817591-112088992	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3418448	chr8:111834718-112112905	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv891295	chr8:111852200-112163801	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3408910	chr8:111922076-111927374	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111925600-111927400	Enhancers	HUVEC	blood vessel
2	chr8:111926800-111927400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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

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