Variant report

Variant	rs62043309
Chromosome Location	chr16:79741871-79741872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16951122	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62043294	0.92[ASN][1000 genomes]
rs62043295	0.92[ASN][1000 genomes]
rs62043296	0.92[ASN][1000 genomes]
rs62043297	0.92[ASN][1000 genomes]
rs62043298	0.92[ASN][1000 genomes]
rs62043299	0.99[ASN][1000 genomes]
rs62043300	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62043301	0.99[ASN][1000 genomes]
rs62043302	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62043303	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62043304	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62043305	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62043306	0.97[ASN][1000 genomes]
rs62043307	0.97[ASN][1000 genomes]
rs62043308	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62043310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62043311	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62043312	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62043314	1.00[ASN][1000 genomes]
rs62043315	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62043316	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62043317	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62043319	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62043336	0.92[ASN][1000 genomes]
rs62043337	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62043338	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv906992	chr16:79649394-79769790	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79737400-79742000	Weak transcription	HMEC	breast
2	chr16:79738800-79744400	Weak transcription	Fetal Intestine Small	intestine
3	chr16:79739600-79742400	Enhancers	NHDF-Ad	bronchial
4	chr16:79739800-79742600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:79740400-79742000	Enhancers	NHLF	lung
6	chr16:79741400-79742400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:79741600-79742000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr16:79741600-79742000	Enhancers	Pancreas	Pancrea
9	chr16:79741600-79742000	Weak transcription	Right Atrium	heart
10	chr16:79741600-79742000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr16:79741600-79742000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr16:79741600-79742200	Enhancers	Left Ventricle	heart
13	chr16:79741600-79742400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:79741600-79742400	Enhancers	Aorta	Aorta
15	chr16:79741600-79742400	Enhancers	Duodenum Mucosa	Duodenum
16	chr16:79741600-79742400	Enhancers	Small Intestine	intestine
17	chr16:79741600-79742400	Enhancers	Stomach Mucosa	stomach
18	chr16:79741800-79742000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr16:79741800-79742200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:79741800-79742200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:79741800-79742200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:79741800-79742200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:79741800-79742200	Enhancers	Fetal Muscle Trunk	muscle
24	chr16:79741800-79742400	Enhancers	Esophagus	oesophagus

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