Variant report

Variant	rs28447020
Chromosome Location	chr16:72290364-72290365
allele	G/T
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:30)

rs_ID	r²[population]
rs11859361	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11860402	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11860913	0.84[EUR][1000 genomes]
rs13330202	0.95[AFR][1000 genomes];1.00[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970748	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970754	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16970775	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970782	1.00[EUR][1000 genomes]
rs16970828	0.84[EUR][1000 genomes]
rs28387686	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28393088	0.84[EUR][1000 genomes]
rs28473657	0.84[EUR][1000 genomes]
rs28522627	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28569404	1.00[EUR][1000 genomes]
rs7200263	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73582956	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027870	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8046891	0.84[EUR][1000 genomes]
rs8051509	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8060309	0.96[AFR][1000 genomes];0.87[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	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9936630	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939692	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9941341	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	nsv906897	chr16:72283147-72326375	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 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	chr16:72289000-72291600	Enhancers	NHDF-Ad	bronchial
3	chr16:72289400-72290800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:72289400-72291200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:72289600-72290400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:72289600-72290600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:72289600-72291000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr16:72289600-72291000	Enhancers	HMEC	breast
9	chr16:72289600-72291400	Enhancers	Osteobl	bone
10	chr16:72289800-72290400	Enhancers	NHEK	skin
11	chr16:72289800-72290800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:72289800-72291200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:72289800-72291400	Enhancers	NHLF	lung
14	chr16:72290000-72290400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:72290000-72290400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:72290000-72290400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:72290000-72290400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:72290000-72290800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:72290000-72291200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr16:72290000-72291200	Enhancers	Ovary	ovary
21	chr16:72290000-72291400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr16:72290000-72291400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:72290000-72291600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr16:72290000-72291800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr16:72290200-72291000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:72290200-72291200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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