Variant report

Variant	rs12325572
Chromosome Location	chr16:80237419-80237420
allele	A/G
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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16952553	1.00[ASN][1000 genomes]
rs16952615	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16952617	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952674	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17734628	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17734742	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17735114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17794680	1.00[ASN][1000 genomes]
rs17794789	1.00[ASN][1000 genomes]
rs17794813	1.00[ASN][1000 genomes]
rs17796486	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17797596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17797992	1.00[ASN][1000 genomes]
rs1904189	0.87[EUR][1000 genomes]
rs7184281	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7192068	1.00[ASN][1000 genomes]
rs7197361	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811567	1.00[ASN][1000 genomes]
rs74028037	0.82[EUR][1000 genomes]
rs74028038	0.82[EUR][1000 genomes]
rs74041375	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80233200-80238400	Weak transcription	Fetal Lung	lung
2	chr16:80236000-80238400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr16:80236400-80238200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:80236400-80238200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:80236400-80238200	Enhancers	HMEC	breast
6	chr16:80236600-80237800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:80236600-80238000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:80236800-80238000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:80237000-80239000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr16:80237200-80238000	Enhancers	NHDF-Ad	bronchial
11	chr16:80237200-80238000	Enhancers	NHEK	skin
12	chr16:80237200-80238800	Weak transcription	Esophagus	oesophagus

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