Variant report

Variant	rs12332533
Chromosome Location	chr5:96749638-96749639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10035513	0.88[EUR][1000 genomes]
rs10035565	0.91[EUR][1000 genomes]
rs10051764	0.94[EUR][1000 genomes]
rs10054076	0.88[EUR][1000 genomes]
rs10054816	0.88[EUR][1000 genomes]
rs10055299	0.88[EUR][1000 genomes]
rs10061167	0.94[EUR][1000 genomes]
rs10063468	0.94[EUR][1000 genomes]
rs10069958	0.88[EUR][1000 genomes]
rs10075933	0.88[EUR][1000 genomes]
rs10076852	0.82[EUR][1000 genomes]
rs13354008	0.85[EUR][1000 genomes]
rs13354043	0.85[EUR][1000 genomes]
rs13354523	0.85[EUR][1000 genomes]
rs13356343	0.82[EUR][1000 genomes]
rs13360631	0.85[EUR][1000 genomes]
rs13361168	0.88[EUR][1000 genomes]
rs17082247	0.82[EUR][1000 genomes]
rs17087492	0.88[EUR][1000 genomes]
rs17087493	0.88[EUR][1000 genomes]
rs17087516	0.88[EUR][1000 genomes]
rs28385871	0.88[EUR][1000 genomes]
rs28639483	0.82[EUR][1000 genomes]
rs28750798	0.88[EUR][1000 genomes]
rs28800648	0.88[EUR][1000 genomes]
rs28837479	0.88[EUR][1000 genomes]
rs60166438	0.82[EUR][1000 genomes]
rs62377268	0.88[EUR][1000 genomes]
rs62377269	0.88[EUR][1000 genomes]
rs62377297	0.88[EUR][1000 genomes]
rs62377298	0.88[EUR][1000 genomes]
rs62377304	0.88[EUR][1000 genomes]
rs62377305	0.88[EUR][1000 genomes]
rs62377306	0.88[EUR][1000 genomes]
rs62377307	0.88[EUR][1000 genomes]
rs62377308	0.88[EUR][1000 genomes]
rs62377309	0.88[EUR][1000 genomes]
rs62377311	0.88[EUR][1000 genomes]
rs62377347	0.88[EUR][1000 genomes]
rs62377348	0.88[EUR][1000 genomes]
rs62377349	0.88[EUR][1000 genomes]
rs62377350	0.88[EUR][1000 genomes]
rs62377351	0.88[EUR][1000 genomes]
rs62377352	0.88[EUR][1000 genomes]
rs62377353	0.88[EUR][1000 genomes]
rs62377354	0.88[EUR][1000 genomes]
rs62377355	0.88[EUR][1000 genomes]
rs62377356	0.88[EUR][1000 genomes]
rs62377357	0.88[EUR][1000 genomes]
rs62377359	0.94[EUR][1000 genomes]
rs62378309	0.82[EUR][1000 genomes]
rs62378342	0.82[EUR][1000 genomes]
rs62378343	0.82[EUR][1000 genomes]
rs62378462	0.94[EUR][1000 genomes]
rs62378463	0.94[EUR][1000 genomes]
rs62378484	0.94[EUR][1000 genomes]
rs6875798	0.94[EUR][1000 genomes]
rs6877080	0.94[EUR][1000 genomes]
rs6879548	1.00[EUR][1000 genomes]
rs6882550	0.82[EUR][1000 genomes]
rs6884708	0.94[EUR][1000 genomes]
rs6886219	0.91[EUR][1000 genomes]
rs6888385	0.88[EUR][1000 genomes]
rs7714487	0.88[EUR][1000 genomes]
rs7721324	0.94[EUR][1000 genomes]
rs7722625	0.92[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	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking 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 target site	24 gene(s)	inside rSNPs	diseases
3	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv534326	chr5:96531217-97283481	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv882394	chr5:96538585-97108559	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1032548	chr5:96565121-97046804	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv537813	chr5:96565121-97046804	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv830415	chr5:96597763-96764157	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1025654	chr5:96613448-96817528	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1025345	chr5:96747650-96777286	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12332533	LNPEP	cis	inferior olivary nucleus	BrainEAC

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96738200-96750200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:96745600-96753600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:96747000-96750000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:96747400-96749800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:96748600-96750600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:96749000-96750200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:96749000-96750200	Weak transcription	GM12878-XiMat	blood
8	chr5:96749400-96749800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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