Variant report

Variant	rs12059472
Chromosome Location	chr1:175234126-175234127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10912954	1.00[AMR][1000 genomes]
rs11484650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062749	1.00[AMR][1000 genomes]
rs12069951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12071778	1.00[AMR][1000 genomes]
rs28370405	1.00[AMR][1000 genomes]
rs28455094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60033655	1.00[AMR][1000 genomes]
rs73038915	1.00[AMR][1000 genomes]
rs73041898	1.00[AMR][1000 genomes]
rs73046101	1.00[AMR][1000 genomes]
rs73047918	0.85[AFR][1000 genomes];1.00[AMR][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	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv831948	chr1:175229631-175407303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175231400-175235800	Weak transcription	Placenta	Placenta
2	chr1:175231800-175236600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:175231800-175236800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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