Variant report

Variant	rs7214564
Chromosome Location	chr17:50307247-50307248
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1004311	0.87[EUR][1000 genomes]
rs10514999	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11867439	0.81[EUR][1000 genomes]
rs11869749	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1825733	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1825734	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1872724	0.81[EUR][1000 genomes]
rs6504763	0.80[EUR][1000 genomes]
rs9303597	0.81[EUR][1000 genomes]
rs9902514	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9910955	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492317	chr17:50067819-50774475	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1064193	chr17:50270352-50320667	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1064285	chr17:50290372-50507829	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv543385	chr17:50290372-50507829	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50306400-50309400	Weak transcription	NHEK	skin
2	chr17:50306600-50308800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:50306600-50308800	Weak transcription	HMEC	breast
4	chr17:50306600-50309800	Weak transcription	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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