Variant report

Variant	rs7132746
Chromosome Location	chr12:86259458-86259459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs12298763	0.86[AFR][1000 genomes]
rs1800832	0.85[EUR][1000 genomes]
rs55644633	0.80[EUR][1000 genomes]
rs55694421	0.88[EUR][1000 genomes]
rs55736533	0.88[EUR][1000 genomes]
rs55746689	0.80[EUR][1000 genomes]
rs55811116	0.87[EUR][1000 genomes]
rs55811700	0.86[EUR][1000 genomes]
rs55853578	0.86[EUR][1000 genomes]
rs55856700	0.88[EUR][1000 genomes]
rs55899243	0.88[EUR][1000 genomes]
rs55900789	0.86[EUR][1000 genomes]
rs55926212	0.88[EUR][1000 genomes]
rs55966514	0.88[EUR][1000 genomes]
rs56169451	0.81[EUR][1000 genomes]
rs56298026	0.81[EUR][1000 genomes]
rs56323012	0.80[EUR][1000 genomes]
rs61928894	0.86[EUR][1000 genomes]
rs61928895	0.86[EUR][1000 genomes]
rs61928896	0.86[EUR][1000 genomes]
rs61928898	0.86[EUR][1000 genomes]
rs61928900	0.86[EUR][1000 genomes]
rs61928903	0.86[EUR][1000 genomes]
rs61928904	0.83[EUR][1000 genomes]
rs61928908	0.86[EUR][1000 genomes]
rs61928913	0.87[EUR][1000 genomes]
rs61928917	0.87[EUR][1000 genomes]
rs61928918	0.80[EUR][1000 genomes]
rs61928956	0.87[EUR][1000 genomes]
rs61928957	0.87[EUR][1000 genomes]
rs61928958	0.87[EUR][1000 genomes]
rs61928959	0.87[EUR][1000 genomes]
rs61930060	0.87[EUR][1000 genomes]
rs61930062	0.87[EUR][1000 genomes]
rs61930069	0.87[EUR][1000 genomes]
rs61930073	0.87[EUR][1000 genomes]
rs61930080	0.87[EUR][1000 genomes]
rs61930082	0.87[EUR][1000 genomes]
rs61930122	0.80[EUR][1000 genomes]
rs61930124	0.88[EUR][1000 genomes]
rs61930128	0.88[EUR][1000 genomes]
rs61930130	0.88[EUR][1000 genomes]
rs61930131	0.80[EUR][1000 genomes]
rs61930135	0.88[EUR][1000 genomes]
rs61930136	0.80[EUR][1000 genomes]
rs61930642	0.86[EUR][1000 genomes]
rs61930643	0.86[EUR][1000 genomes]
rs61930651	0.86[EUR][1000 genomes]
rs61930653	0.86[EUR][1000 genomes]
rs61930863	0.88[EUR][1000 genomes]
rs61930876	0.88[EUR][1000 genomes]
rs61930878	0.87[EUR][1000 genomes]
rs61930880	0.87[EUR][1000 genomes]
rs61930881	0.87[EUR][1000 genomes]
rs61930882	0.87[EUR][1000 genomes]
rs61930895	0.81[EUR][1000 genomes]
rs7298173	0.87[AFR][1000 genomes]
rs7962310	0.88[EUR][1000 genomes]
rs7973110	0.88[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	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1049443	chr12:86185887-86272493	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
5	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1036914	chr12:86201703-86272493	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Lewy body disease	25188341	GWAS catalog

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86254800-86260800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:86259400-86259800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:86259400-86260200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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