Variant report

Variant	rs8050061
Chromosome Location	chr16:80265836-80265837
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	chr16:80264628..80267560-chr16:80268812..80271604,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10048094	0.88[ASN][1000 genomes]
rs11644383	0.88[ASN][1000 genomes]
rs13331759	0.86[ASN][1000 genomes]
rs4889119	0.83[ASN][1000 genomes]
rs6564748	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8054232	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs8060494	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9922904	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9933861	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8050061	CNTNAP4	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80263800-80266800	Enhancers	Osteobl	bone
2	chr16:80263800-80267800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr16:80264000-80266800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:80264200-80266600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:80264200-80266800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr16:80264200-80268400	Enhancers	Fetal Lung	lung
7	chr16:80264400-80266200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:80264600-80266600	Enhancers	HMEC	breast
9	chr16:80264600-80267800	Enhancers	Ovary	ovary
10	chr16:80264800-80266200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:80264800-80266600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:80264800-80266600	Enhancers	NHEK	skin
13	chr16:80265000-80266200	Enhancers	HSMM	muscle
14	chr16:80265000-80266400	Enhancers	NHLF	lung
15	chr16:80265000-80266600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr16:80265000-80266600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:80265000-80266600	Enhancers	NHDF-Ad	bronchial
18	chr16:80265000-80267200	Enhancers	Primary B cells from peripheral blood	blood
19	chr16:80265200-80266000	Enhancers	Stomach Smooth Muscle	stomach
20	chr16:80265200-80266000	Enhancers	GM12878-XiMat	blood
21	chr16:80265200-80266600	Enhancers	NH-A	brain
22	chr16:80265200-80267800	Enhancers	Fetal Stomach	stomach
23	chr16:80265200-80267800	Enhancers	HepG2	liver
24	chr16:80265400-80266000	Enhancers	Esophagus	oesophagus
25	chr16:80265400-80266000	Enhancers	Pancreas	Pancrea
26	chr16:80265400-80266200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:80265400-80266400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:80265400-80266800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:80265400-80267800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr16:80265600-80266000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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