Variant report

Variant	rs62116478
Chromosome Location	chr2:12139804-12139805
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10495586	0.85[EUR][1000 genomes]
rs12472261	0.81[EUR][1000 genomes]
rs12476424	0.81[EUR][1000 genomes]
rs12478956	0.83[EUR][1000 genomes]
rs12479075	0.83[EUR][1000 genomes]
rs13026386	0.81[EUR][1000 genomes]
rs13027180	0.81[EUR][1000 genomes]
rs16858133	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs34163220	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35875804	0.83[EUR][1000 genomes]
rs35921314	0.81[EUR][1000 genomes]
rs35971524	0.83[EUR][1000 genomes]
rs55752546	0.81[EUR][1000 genomes]
rs55804172	0.81[EUR][1000 genomes]
rs56057816	0.83[EUR][1000 genomes]
rs56159518	0.81[EUR][1000 genomes]
rs56278051	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12137200-12148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:12137400-12140200	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:12138000-12140200	Enhancers	HSMMtube	muscle
4	chr2:12138600-12142000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:12139000-12144800	Weak transcription	Primary T cells from cord blood	blood
6	chr2:12139000-12145200	Weak transcription	HUVEC	blood vessel
7	chr2:12139200-12146200	Weak transcription	NHLF	lung
8	chr2:12139600-12140600	Enhancers	GM12878-XiMat	blood
9	chr2:12139600-12146200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	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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