Variant report

Variant	rs17116352
Chromosome Location	chr14:46168561-46168562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10134999	0.89[EUR][1000 genomes]
rs10145843	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1266259	0.82[ASN][1000 genomes]
rs1686235	0.83[EUR][1000 genomes]
rs17116250	0.91[ASN][1000 genomes]
rs17116251	0.91[ASN][1000 genomes]
rs17116252	0.91[ASN][1000 genomes]
rs17116269	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17116271	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17116287	0.88[EUR][1000 genomes]
rs17116303	0.91[EUR][1000 genomes]
rs17116364	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17116377	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17116385	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1750087	0.85[EUR][1000 genomes]
rs1906787	0.88[EUR][1000 genomes]
rs1906789	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1906799	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1906809	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2093412	0.87[CEU][hapmap]
rs2250214	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2297998	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28522365	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28835981	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28872244	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35080792	0.85[ASN][1000 genomes]
rs4624080	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56799770	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57434363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57969791	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59944893	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61019014	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61071649	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73343512	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73343514	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73343516	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73343519	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345722	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73347348	0.81[ASN][1000 genomes]
rs73359414	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73359417	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73359422	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73359438	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73359460	0.91[EUR][1000 genomes]
rs8005289	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946994	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs946995	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1042989	chr14:45774194-46489107	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv901847	chr14:45797782-46607899	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2422441	chr14:45848850-46325684	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1035463	chr14:45940562-46201777	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv542083	chr14:45940562-46201777	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv976289	chr14:45973774-46282154	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1044871	chr14:46007760-46432325	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv456282	chr14:46024675-46458696	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv564729	chr14:46024675-46458696	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv564730	chr14:46122141-46729024	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2761835	chr14:46145141-46231045	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv456283	chr14:46147441-46180960	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
14	nsv564731	chr14:46147441-46180960	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46166800-46169600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:46166800-46169600	Enhancers	Fetal Heart	heart
3	chr14:46167000-46170400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr14:46167400-46169000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr14:46167600-46168600	Enhancers	Stomach Mucosa	stomach
6	chr14:46167600-46168800	Enhancers	HUVEC	blood vessel
7	chr14:46167600-46169600	Enhancers	HMEC	breast
8	chr14:46167600-46169600	Enhancers	NHEK	skin
9	chr14:46167800-46169600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:46167800-46169600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:46168000-46169000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:46168000-46169000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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