Variant report

Variant	rs12149203
Chromosome Location	chr16:79718181-79718182
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11150188	0.83[EUR][1000 genomes]
rs11150189	0.82[EUR][1000 genomes]
rs11150191	0.83[EUR][1000 genomes]
rs11644836	0.83[EUR][1000 genomes]
rs11646791	0.83[EUR][1000 genomes]
rs11864901	0.82[EUR][1000 genomes]
rs11865979	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12444166	0.83[EUR][1000 genomes]
rs12449161	0.80[EUR][1000 genomes]
rs16950982	0.83[EUR][1000 genomes]
rs17689024	0.88[EUR][1000 genomes]
rs17689159	0.88[EUR][1000 genomes]
rs17689455	0.87[EUR][1000 genomes]
rs17689625	0.86[EUR][1000 genomes]
rs17767383	0.86[EUR][1000 genomes]
rs17767419	0.87[EUR][1000 genomes]
rs17767491	0.87[EUR][1000 genomes]
rs17767742	0.86[EUR][1000 genomes]
rs17767904	0.86[EUR][1000 genomes]
rs3813580	0.86[EUR][1000 genomes]
rs3813582	0.86[EUR][1000 genomes]
rs4575545	0.81[EUR][1000 genomes]
rs56738967	0.88[EUR][1000 genomes]
rs57652769	0.85[EUR][1000 genomes]
rs58722186	0.85[EUR][1000 genomes]
rs7188445	0.82[EUR][1000 genomes]
rs7190187	0.82[EUR][1000 genomes]
rs7195321	0.82[EUR][1000 genomes]
rs7202240	0.87[EUR][1000 genomes]
rs7203756	0.86[EUR][1000 genomes]
rs73575076	0.86[EUR][1000 genomes]
rs73575079	0.87[EUR][1000 genomes]
rs73575083	0.85[EUR][1000 genomes]
rs73575085	0.86[EUR][1000 genomes]
rs73575086	0.86[EUR][1000 genomes]
rs73575095	0.86[EUR][1000 genomes]
rs8053589	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv518748	chr16:79716333-79729031	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12149203	RP11-345M22.2	cis	Thyroid	GTEx
rs12149203	RP11-345M22.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79708400-79720400	Weak transcription	Ovary	ovary
2	chr16:79714800-79721400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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