Variant report

Variant	rs573857
Chromosome Location	chr11:63212799-63212800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs35375575	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs493232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs525319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs532501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs544255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs553407	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56380757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs564090	0.84[AFR][1000 genomes]
rs567641	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57478357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57658167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59235496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs610729	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs616365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs619911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs666353	0.84[AFR][1000 genomes]
rs679892	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7931518	1.00[ASW][hapmap]

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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	esv1822068	chr11:63146055-63239984	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3434037	chr11:63170556-63217699	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv350	chr11:63194122-63213673	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs573857	NAA40	cis	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63211800-63213000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:63212600-63214200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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