Variant report

Variant	rs12652343
Chromosome Location	chr5:164511663-164511664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1019444	0.97[ASN][1000 genomes]
rs11135347	0.93[ASN][1000 genomes]
rs12520638	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13160815	0.93[ASN][1000 genomes]
rs13183298	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1421678	0.97[ASN][1000 genomes]
rs17072571	0.97[ASN][1000 genomes]
rs4362959	0.93[ASN][1000 genomes]
rs6884200	0.82[ASN][1000 genomes]
rs766121	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7717921	0.83[ASN][1000 genomes]
rs969903	0.94[ASN][1000 genomes]
rs991328	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995060	chr5:163660200-164620500	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv528624	chr5:164319435-164701201	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1033866	chr5:164419608-164677758	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv883092	chr5:164443094-164529549	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1031772	chr5:164451602-164512911	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12652343	ODZ2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164510200-164512600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:164510400-164514200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:164511000-164512000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:164511000-164512000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:164511200-164511800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:164511400-164511800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:164511400-164511800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:164511600-164511800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:164511600-164512000	Enhancers	Brain Germinal Matrix	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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