Variant report

Variant	rs619911
Chromosome Location	chr11:63213204-63213205
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]
rs573857	1.00[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]
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
rs619911	NAA40	cis	lymphoblastoid	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63212600-63214200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:63212800-63213400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:63213000-63213400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr11:63213000-63213400	Enhancers	HSMMtube	muscle
5	chr11:63213000-63213400	Enhancers	NHDF-Ad	bronchial
6	chr11:63213000-63213600	Enhancers	Osteobl	bone
7	chr11:63213000-63213800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:63213000-63214200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:63213200-63213400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr11:63213200-63213600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:63213200-63213800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr11:63213200-63213800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:63213200-63213800	Enhancers	HMEC	breast
14	chr11:63213200-63213800	Enhancers	NHEK	skin

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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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