Variant report

Variant	rs7359442
Chromosome Location	chr16:80267761-80267762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10083792	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10514489	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11649576	0.95[ASN][1000 genomes]
rs11861537	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12927215	0.80[EUR][1000 genomes]
rs13333849	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382388	0.92[ASN][1000 genomes]
rs1478509	0.95[ASN][1000 genomes]
rs16952630	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34007647	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34064985	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34323633	0.80[EUR][1000 genomes]
rs34799329	0.80[EUR][1000 genomes]
rs34969500	0.80[EUR][1000 genomes]
rs4889119	0.80[EUR][1000 genomes]
rs72811537	0.80[EUR][1000 genomes]
rs8060164	0.95[ASN][1000 genomes]
rs9932933	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938674	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[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
rs7359442	CNTNAP4	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80263800-80267800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr16:80264200-80268400	Enhancers	Fetal Lung	lung
3	chr16:80264600-80267800	Enhancers	Ovary	ovary
4	chr16:80265200-80267800	Enhancers	Fetal Stomach	stomach
5	chr16:80265200-80267800	Enhancers	HepG2	liver
6	chr16:80265400-80267800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr16:80266600-80267800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:80266800-80268200	Enhancers	Fetal Kidney	kidney
9	chr16:80267000-80267800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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