Variant report

Variant	rs7185715
Chromosome Location	chr16:80332941-80332942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1094134	0.85[ASN][1000 genomes]
rs11150259	0.84[EUR][1000 genomes]
rs11150264	0.81[ASN][1000 genomes]
rs11150265	0.83[ASN][1000 genomes]
rs11150266	0.84[ASN][1000 genomes]
rs11150267	0.85[ASN][1000 genomes]
rs11150268	0.81[ASN][1000 genomes]
rs11640342	0.83[ASN][1000 genomes]
rs11645030	0.84[ASN][1000 genomes]
rs11645305	0.84[ASN][1000 genomes]
rs12597946	0.81[ASN][1000 genomes]
rs12918117	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12922310	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12922572	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12935352	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2626653	0.82[ASN][1000 genomes]
rs4448956	0.83[ASN][1000 genomes]
rs7186257	0.84[ASN][1000 genomes]
rs7187041	0.85[ASN][1000 genomes]
rs7193250	0.84[ASN][1000 genomes]
rs7193273	0.85[ASN][1000 genomes]
rs7196509	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv949197	chr16:80284557-80456403	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1064628	chr16:80286004-80406177	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv542986	chr16:80286004-80406177	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv2762333	chr16:80307755-80509983	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv573296	chr16:80315263-80338877	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv1056026	chr16:80317627-80471469	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv542987	chr16:80317627-80471469	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv906998	chr16:80320056-80371102	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	esv33683	chr16:80325303-80334014	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7185715	CDH13	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80332200-80333000	Enhancers	Stomach Smooth Muscle	stomach
2	chr16:80332200-80333000	Enhancers	NH-A	brain
3	chr16:80332200-80334600	Enhancers	Pancreas	Pancrea
4	chr16:80332200-80335000	Enhancers	NHDF-Ad	bronchial
5	chr16:80332200-80335400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:80332200-80335600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:80332200-80335800	Enhancers	HSMM	muscle
8	chr16:80332200-80336000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr16:80332400-80334000	Enhancers	Fetal Lung	lung
10	chr16:80332400-80334200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr16:80332400-80334200	Enhancers	HSMMtube	muscle
12	chr16:80332400-80334400	Enhancers	Fetal Stomach	stomach
13	chr16:80332400-80334400	Enhancers	Gastric	stomach
14	chr16:80332400-80335200	Enhancers	Osteobl	bone
15	chr16:80332600-80333000	Enhancers	Fetal Kidney	kidney
16	chr16:80332600-80334600	Enhancers	NHLF	lung
17	chr16:80332600-80335000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:80332600-80335600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:80332600-80335800	Enhancers	A549	lung
20	chr16:80332800-80334000	Enhancers	Placenta	Placenta
21	chr16:80332800-80334800	Enhancers	Aorta	Aorta
22	chr16:80332800-80334800	Enhancers	HUVEC	blood vessel
23	chr16:80332800-80335200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:80332800-80336000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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