Variant report

Variant	rs72686314
Chromosome Location	chr8:120457950-120457951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10505358	0.97[ASN][1000 genomes]
rs1461692	1.00[ASN][1000 genomes]
rs16892552	0.94[ASN][1000 genomes]
rs16892553	0.97[ASN][1000 genomes]
rs16892556	0.97[ASN][1000 genomes]
rs2071519	0.94[ASN][1000 genomes]
rs2100836	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58210708	0.91[ASN][1000 genomes]
rs72684284	1.00[AMR][1000 genomes]
rs72684294	0.87[ASN][1000 genomes]
rs72684295	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72684297	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72684298	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72684301	0.97[ASN][1000 genomes]
rs72686303	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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1026655	chr8:120282929-120522329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 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	chr8:120451800-120461400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:120457200-120458400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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