Variant report

Variant	rs28468451
Chromosome Location	chr19:51514311-51514312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2066975	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2075692	0.80[ASN][1000 genomes]
rs28434175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73936112	0.89[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	chr19:51510200-51517000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr19:51512000-51514800	Enhancers	HMEC	breast
3	chr19:51512200-51514400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:51513000-51514800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:51513400-51514800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:51513400-51514800	Enhancers	NHEK	skin
7	chr19:51514000-51514600	Enhancers	Esophagus	oesophagus

Quick Search:

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

what's new

Quick links