Variant report

Variant	rs12129708
Chromosome Location	chr1:215026385-215026386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11120431	0.93[EUR][1000 genomes]
rs12120735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12122103	0.91[EUR][1000 genomes]
rs12125500	0.81[EUR][1000 genomes]
rs12128520	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12132378	0.93[EUR][1000 genomes]
rs12402856	0.91[EUR][1000 genomes]
rs28473621	0.91[EUR][1000 genomes]
rs28581514	0.91[EUR][1000 genomes]
rs73076218	0.81[EUR][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	nsv873167	chr1:214950361-215116947	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873168	chr1:214962771-215064388	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 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	chr1:215021600-215027400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:215021600-215031200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:215024200-215027600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:215025400-215035200	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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