Variant report

Variant	rs28615887
Chromosome Location	chr16:80237041-80237042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80236581..80241287-chr16:80241834..80245112,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10514488	0.96[EUR][1000 genomes]
rs11648758	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12149733	0.96[EUR][1000 genomes]
rs13380441	0.96[EUR][1000 genomes]
rs13380491	0.81[EUR][1000 genomes]
rs1382389	0.81[AMR][1000 genomes]
rs1564219	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1564220	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1842025	0.89[EUR][1000 genomes]
rs1904188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2069012	0.95[EUR][1000 genomes]
rs2169804	0.82[AMR][1000 genomes]
rs2169807	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34338989	0.95[EUR][1000 genomes]
rs4889116	0.81[AMR][1000 genomes]
rs4889121	0.81[AFR][1000 genomes]
rs7186149	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8043986	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8047391	0.86[AMR][1000 genomes]
rs8054317	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8061813	0.89[AMR][1000 genomes]
rs9889013	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9926004	0.83[EUR][1000 genomes]
rs9930130	0.82[AMR][1000 genomes]
rs9934453	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9938515	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9940589	0.81[AMR][1000 genomes]
rs9944373	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055228	chr16:80207546-80378842	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1061068	chr16:80207546-80537052	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1064093	chr16:80208443-80333301	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv542985	chr16:80208443-80333301	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1059997	chr16:80209367-80247050	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1063466	chr16:80227628-80360463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv906996	chr16:80230224-80334010	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	esv3364395	chr16:80236698-80237060	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80233200-80237200	Weak transcription	NHDF-Ad	bronchial
2	chr16:80233200-80238400	Weak transcription	Fetal Lung	lung
3	chr16:80236000-80238400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:80236400-80238200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:80236400-80238200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:80236400-80238200	Enhancers	HMEC	breast
7	chr16:80236600-80237800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr16:80236600-80238000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:80236800-80238000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:80237000-80237200	Enhancers	Esophagus	oesophagus
11	chr16:80237000-80237200	Flanking Active TSS	NHEK	skin
12	chr16:80237000-80239000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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