Variant report

Variant	rs4927253
Chromosome Location	chr1:56028652-56028653
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17112378	1.00[EUR][1000 genomes]
rs17112596	0.91[AMR][1000 genomes]
rs17112601	0.91[AMR][1000 genomes]
rs35813848	0.88[EUR][1000 genomes]
rs4927250	0.88[EUR][1000 genomes]
rs4927251	1.00[EUR][1000 genomes]
rs4927252	1.00[EUR][1000 genomes]
rs58581179	0.88[EUR][1000 genomes]
rs66579261	0.88[EUR][1000 genomes]
rs66600550	0.88[EUR][1000 genomes]
rs66691492	0.88[EUR][1000 genomes]
rs66792170	0.88[EUR][1000 genomes]
rs66853464	1.00[EUR][1000 genomes]
rs66942850	0.88[EUR][1000 genomes]
rs67487376	0.96[EUR][1000 genomes]
rs67669773	0.88[EUR][1000 genomes]
rs72669744	0.91[AMR][1000 genomes]
rs72669746	0.91[AMR][1000 genomes]
rs72669747	0.91[AMR][1000 genomes]
rs72908681	0.88[EUR][1000 genomes]
rs9793486	1.00[EUR][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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56025800-56038400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	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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