Variant report

Variant	rs7559596
Chromosome Location	chr2:178512371-178512372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16865476	0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865493	0.84[MKK][hapmap]
rs16865498	0.84[MKK][hapmap]
rs4555380	1.00[AMR][1000 genomes]
rs6712307	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977672	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977675	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977677	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977679	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977693	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977698	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977699	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979509	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979510	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979511	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7575717	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178509000-178516600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:178512000-178516400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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