Variant report

Variant	rs7119027
Chromosome Location	chr11:120142525-120142526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10750169	0.89[EUR][1000 genomes]
rs1941406	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1941411	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2015914	0.87[EUR][1000 genomes]
rs2096882	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2155808	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2715881	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715883	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2715888	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2847494	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7484249	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs753309	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120137400-120152200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:120141600-120143000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:120141800-120143800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:120142000-120142600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:120142000-120143800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:120142000-120144400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:120142200-120142600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:120142200-120142800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:120142200-120143400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:120142200-120143400	Enhancers	Esophagus	oesophagus
11	chr11:120142200-120144000	Enhancers	HMEC	breast
12	chr11:120142400-120142800	Flanking Active TSS	NHEK	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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