Variant report

Variant	rs9932933
Chromosome Location	chr16:80265425-80265426
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	chr16:80264628..80267560-chr16:80268812..80271604,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10083792	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10514489	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11649576	0.95[ASN][1000 genomes]
rs11861537	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13333849	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382388	0.92[ASN][1000 genomes]
rs1478509	0.95[ASN][1000 genomes]
rs16952630	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34007647	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34064985	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889119	0.81[EUR][1000 genomes]
rs7359442	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8060164	0.95[ASN][1000 genomes]
rs9935498	0.82[YRI][hapmap]
rs9938674	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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
rs9932933	CNTNAP4	cis	parietal	SCAN

Chromatin state (count:33 , 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
27	chr16:80265400-80265800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr16:80265400-80266000	Enhancers	Esophagus	oesophagus
29	chr16:80265400-80266000	Enhancers	Pancreas	Pancrea
30	chr16:80265400-80266200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:80265400-80266400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:80265400-80266800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:80265400-80267800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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