Variant report

Variant	rs7692314
Chromosome Location	chr4:7501447-7501448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10032900	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11930924	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs11942382	1.00[CHB][hapmap]
rs12330969	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12640530	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16840376	1.00[CEU][hapmap]
rs1807084	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372374	0.84[EUR][1000 genomes]
rs28581799	0.84[EUR][1000 genomes]
rs34135533	0.87[ASN][1000 genomes]
rs34607342	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4096	0.82[CHB][hapmap]
rs4234823	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4260538	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4260539	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4286514	0.82[EUR][1000 genomes]
rs4330350	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs4388088	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455412	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4546243	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs4623001	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs4632658	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635817	0.82[EUR][1000 genomes]
rs4689128	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs4689764	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689765	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689766	1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs4689767	0.85[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs62280170	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62280181	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6446605	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs750136	0.96[ASN][1000 genomes]
rs7654337	1.00[CHB][hapmap]
rs7654768	1.00[CEU][hapmap]
rs7660550	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs7669829	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675681	0.87[CEU][hapmap]
rs7680189	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs7693724	0.82[EUR][1000 genomes]
rs7693926	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv469758	chr4:7370083-7546250	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv878561	chr4:7402284-7544610	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv878563	chr4:7420785-7529367	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv878564	chr4:7421007-7535214	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv878566	chr4:7456717-7529367	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv878567	chr4:7456717-7544610	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
11	esv34002	chr4:7481398-7508494	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
12	nsv878568	chr4:7490246-7529367	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv878569	chr4:7496857-7544610	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7692314	UBE2I	trans	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7499600-7502200	Enhancers	Brain Germinal Matrix	brain
2	chr4:7499800-7502000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr4:7500200-7503200	Enhancers	Brain Angular Gyrus	brain
4	chr4:7500200-7503200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr4:7500800-7501800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:7500800-7502200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:7501000-7502200	Enhancers	Brain Anterior Caudate	brain
8	chr4:7501000-7503400	Enhancers	Brain Cingulate Gyrus	brain
9	chr4:7501200-7503200	Enhancers	Brain Hippocampus Middle	brain
10	chr4:7501200-7503600	Enhancers	Brain Substantia Nigra	brain

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