Variant report

Variant	rs72714268
Chromosome Location	chr8:130506952-130506953
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16904080	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17262815	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1897449	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61684115	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67674260	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72714249	0.82[EUR][1000 genomes]
rs72714253	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72714255	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs919702	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1839602	chr8:130503150-130510068	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130503600-130519600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130506200-130507000	ZNF genes & repeats	Dnd41	blood
3	chr8:130506800-130507800	ZNF genes & repeats	K562	blood

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

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