Variant report

Variant	rs2847497
Chromosome Location	chr11:120112699-120112700
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10790371	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2465653	0.81[EUR][1000 genomes]
rs2465654	0.89[GIH][hapmap];0.82[EUR][1000 genomes]
rs2847500	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2953362	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2847497	POU2F3	cis	Esophagus Muscularis	GTEx
rs2847497	POU2F3	cis	Liver	GTEx
rs2847497	POU2F3	cis	Heart Left Ventricle	GTEx
rs2847497	POU2F3	cis	Stomach	GTEx
rs2847497	POU2F3	cis	Adipose Subcutaneous	GTEx
rs2847497	POU2F3	cis	multi-tissue	Pritchard
rs2847497	OAF	cis	multi-tissue	Pritchard
rs2847497	POU2F3	cis	Nerve Tibial	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120111800-120113800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:120112000-120115400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:120112200-120115200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:120112600-120119600	Weak transcription	Esophagus	oesophagus

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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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