Variant report

Variant	rs1713489
Chromosome Location	chr16:12738233-12738234
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1078157	0.89[EUR][1000 genomes]
rs11075135	0.89[EUR][1000 genomes]
rs11075136	0.88[EUR][1000 genomes]
rs11075138	0.84[EUR][1000 genomes]
rs12445715	0.84[EUR][1000 genomes]
rs12600248	0.89[EUR][1000 genomes]
rs1560110	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1560111	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1651010	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1651015	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2434463	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2865585	0.90[EUR][1000 genomes]
rs2865586	0.89[EUR][1000 genomes]
rs3107083	0.80[ASN][1000 genomes]
rs34953655	0.88[EUR][1000 genomes]
rs4374158	0.94[EUR][1000 genomes]
rs4781303	0.95[EUR][1000 genomes]
rs4781304	0.95[EUR][1000 genomes]
rs4781305	0.89[EUR][1000 genomes]
rs4781306	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4781309	0.89[EUR][1000 genomes]
rs4781310	0.89[EUR][1000 genomes]
rs4781312	0.88[EUR][1000 genomes]
rs59468878	0.88[EUR][1000 genomes]
rs7193365	0.94[EUR][1000 genomes]
rs7197012	0.90[EUR][1000 genomes]
rs7197205	0.90[EUR][1000 genomes]
rs7198104	0.89[EUR][1000 genomes]
rs7198933	0.94[EUR][1000 genomes]
rs7204517	0.94[EUR][1000 genomes]
rs7359474	0.89[EUR][1000 genomes]
rs890877	0.88[EUR][1000 genomes]
rs890878	0.89[EUR][1000 genomes]
rs890879	0.89[EUR][1000 genomes]
rs890881	0.87[EUR][1000 genomes]
rs9652605	0.89[EUR][1000 genomes]
rs9652606	0.89[EUR][1000 genomes]
rs9927892	0.90[EUR][1000 genomes]
rs9928677	0.87[EUR][1000 genomes]
rs9930512	0.90[EUR][1000 genomes]
rs9939106	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1041381	chr16:12724989-12751796	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1053617	chr16:12730958-12871639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv869284	chr16:12735729-13533462	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12737000-12738800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr16:12737600-12738400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr16:12737600-12738400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:12737600-12740200	Enhancers	HUVEC	blood vessel
5	chr16:12737800-12738400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:12737800-12738400	Enhancers	Brain Hippocampus Middle	brain
7	chr16:12737800-12738600	Flanking Active TSS	Osteobl	bone
8	chr16:12737800-12738800	Flanking Active TSS	HepG2	liver
9	chr16:12738000-12738800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:12738000-12738800	Enhancers	A549	lung
11	chr16:12738000-12739000	Enhancers	Liver	Liver
12	chr16:12738200-12738400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:12738200-12738400	Enhancers	HSMM	muscle
14	chr16:12738200-12738400	Enhancers	NH-A	brain
15	chr16:12738200-12738600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:12738200-12740200	Weak transcription	Brain Substantia Nigra	brain

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