Variant report

Variant	rs2066975
Chromosome Location	chr19:51512354-51512355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28434175	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28468451	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs55996051	0.82[ASN][1000 genomes]
rs7245714	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs73936105	0.81[ASN][1000 genomes]
rs73936112	0.82[ASN][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	nsv912291	chr19:51505725-51537682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv579961	chr19:51509726-51516015	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51507200-51512400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51510200-51512400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:51510200-51517000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr19:51512000-51512800	Enhancers	NHEK	skin
5	chr19:51512000-51514800	Enhancers	HMEC	breast
6	chr19:51512200-51512400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:51512200-51514400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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