Variant report

Variant	rs8060563
Chromosome Location	chr16:80265287-80265288
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80264628..80267560-chr16:80268812..80271604,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11648758	0.92[ASN][1000 genomes]
rs11648961	0.86[ASN][1000 genomes]
rs13330923	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28797541	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889121	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6564744	0.84[GIH][hapmap];0.83[MEX][hapmap]
rs8054317	0.80[AFR][1000 genomes]
rs9889013	0.89[ASN][1000 genomes]
rs9926004	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9939179	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][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	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
7	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
8	nsv573295	chr16:80251265-80341115	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv906997	chr16:80260166-80291161	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8060563	CFDP1	cis	parietal	SCAN
rs8060563	ADAMTS18	cis	parietal	SCAN
rs8060563	VAT1L	cis	cerebellum	SCAN
rs8060563	BMS1	trans	parietal	SCAN
rs8060563	C16orf46	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80263800-80265600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr16:80263800-80266800	Enhancers	Osteobl	bone
3	chr16:80263800-80267800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:80264000-80266800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:80264200-80266600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:80264200-80266800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:80264200-80268400	Enhancers	Fetal Lung	lung
8	chr16:80264400-80266200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:80264600-80266600	Enhancers	HMEC	breast
10	chr16:80264600-80267800	Enhancers	Ovary	ovary
11	chr16:80264800-80266200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:80264800-80266600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:80264800-80266600	Enhancers	NHEK	skin
14	chr16:80265000-80265600	Active TSS	Fetal Brain Male	brain
15	chr16:80265000-80265800	Enhancers	Colon Smooth Muscle	Colon
16	chr16:80265000-80266200	Enhancers	HSMM	muscle
17	chr16:80265000-80266400	Enhancers	NHLF	lung
18	chr16:80265000-80266600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr16:80265000-80266600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:80265000-80266600	Enhancers	NHDF-Ad	bronchial
21	chr16:80265000-80267200	Enhancers	Primary B cells from peripheral blood	blood
22	chr16:80265200-80266000	Enhancers	Stomach Smooth Muscle	stomach
23	chr16:80265200-80266000	Enhancers	GM12878-XiMat	blood
24	chr16:80265200-80266600	Enhancers	NH-A	brain
25	chr16:80265200-80267800	Enhancers	Fetal Stomach	stomach
26	chr16:80265200-80267800	Enhancers	HepG2	liver

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