Variant report

Variant	rs6748751
Chromosome Location	chr2:113711208-113711209
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:18)

rs_ID	r²[population]
rs10496443	1.00[AMR][1000 genomes]
rs1143631	1.00[AMR][1000 genomes]
rs17042486	1.00[AMR][1000 genomes]
rs28928296	1.00[AMR][1000 genomes]
rs3783565	1.00[AMR][1000 genomes]
rs57986359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6542111	1.00[AMR][1000 genomes]
rs6707608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6721020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6722276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726111	1.00[AMR][1000 genomes]
rs72942424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7556811	1.00[AMR][1000 genomes]
rs7556903	1.00[AMR][1000 genomes]
rs7590199	1.00[AMR][1000 genomes]
rs7590499	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr2:113703000-113711400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:113711000-113715000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:113711200-113712600	Enhancers	HMEC	breast

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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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