Variant report

Variant	rs28387686
Chromosome Location	chr16:72283142-72283143
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10492818	0.85[AMR][1000 genomes]
rs11859361	1.00[EUR][1000 genomes]
rs11860402	0.92[EUR][1000 genomes]
rs11860913	0.84[EUR][1000 genomes]
rs13330202	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13336735	1.00[EUR][1000 genomes]
rs13338000	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs16970746	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970748	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970754	0.88[AFR][1000 genomes]
rs16970775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970782	1.00[EUR][1000 genomes]
rs16970828	0.84[EUR][1000 genomes]
rs28393088	0.84[EUR][1000 genomes]
rs28447020	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28473657	0.84[EUR][1000 genomes]
rs28522627	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28569404	1.00[EUR][1000 genomes]
rs7200263	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73582956	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74027870	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046891	0.84[EUR][1000 genomes]
rs8051509	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8060309	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9889208	0.84[EUR][1000 genomes]
rs9921204	0.92[EUR][1000 genomes]
rs9922853	0.84[EUR][1000 genomes]
rs9922883	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9936630	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939692	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9941341	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv1059599	chr16:72219769-72342170	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1066473	chr16:72229094-72373598	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72278600-72290600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:72280400-72283600	Enhancers	Ovary	ovary
3	chr16:72281000-72284200	Enhancers	NHDF-Ad	bronchial
4	chr16:72281800-72283600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:72282200-72290000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:72282600-72283600	Enhancers	Pancreas	Pancrea
7	chr16:72282800-72283200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:72282800-72284800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr16:72282800-72289600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:72283000-72284000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:72283000-72284200	Weak transcription	HSMM	muscle
12	chr16:72283000-72284600	Weak transcription	Dnd41	blood
13	chr16:72283000-72288800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:72283000-72289400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:72283000-72290000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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