Variant report

Variant	rs4882383
Chromosome Location	chr12:83755902-83755903
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10047542	0.86[ASN][1000 genomes]
rs10047543	0.86[ASN][1000 genomes]
rs10047574	0.86[ASN][1000 genomes]
rs10047575	0.86[ASN][1000 genomes]
rs10778980	0.85[ASN][1000 genomes]
rs10778981	0.86[ASN][1000 genomes]
rs10778982	0.85[ASN][1000 genomes]
rs10778983	0.86[ASN][1000 genomes]
rs10778984	0.86[ASN][1000 genomes]
rs10778985	0.86[ASN][1000 genomes]
rs10778986	0.86[ASN][1000 genomes]
rs10778987	0.86[ASN][1000 genomes]
rs10778988	0.86[ASN][1000 genomes]
rs10778989	0.86[ASN][1000 genomes]
rs10778990	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs10778991	0.90[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs10778992	0.93[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs10862642	0.86[ASN][1000 genomes]
rs10862643	0.86[ASN][1000 genomes]
rs10862644	0.86[ASN][1000 genomes]
rs10862645	0.86[ASN][1000 genomes]
rs10862647	0.86[ASN][1000 genomes]
rs10862650	0.86[ASN][1000 genomes]
rs10862651	0.86[ASN][1000 genomes]
rs10862652	0.86[ASN][1000 genomes]
rs10862653	0.86[ASN][1000 genomes]
rs10862654	0.86[ASN][1000 genomes]
rs10862656	0.81[ASN][1000 genomes]
rs10862659	0.86[ASN][1000 genomes]
rs11115755	0.86[ASN][1000 genomes]
rs11115759	0.86[ASN][1000 genomes]
rs11115760	0.83[ASN][1000 genomes]
rs11115764	0.86[ASN][1000 genomes]
rs11115765	0.86[ASN][1000 genomes]
rs11115766	0.86[ASN][1000 genomes]
rs11115768	0.86[ASN][1000 genomes]
rs11115772	0.86[ASN][1000 genomes]
rs11115773	0.86[ASN][1000 genomes]
rs11115777	0.86[ASN][1000 genomes]
rs12299063	0.94[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs12368213	0.86[ASN][1000 genomes]
rs4269996	0.86[ASN][1000 genomes]
rs4274267	0.86[ASN][1000 genomes]
rs4346039	0.86[ASN][1000 genomes]
rs4471519	0.86[ASN][1000 genomes]
rs4506727	0.86[ASN][1000 genomes]
rs4512929	0.86[ASN][1000 genomes]
rs4520676	0.86[ASN][1000 genomes]
rs4526842	0.84[ASN][1000 genomes]
rs4540901	0.86[ASN][1000 genomes]
rs4584655	0.86[ASN][1000 genomes]
rs4988663	0.80[ASN][1000 genomes]
rs4988664	0.80[ASN][1000 genomes]
rs4988665	0.85[ASN][1000 genomes]
rs6539742	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133909	0.86[ASN][1000 genomes]
rs7309196	0.86[ASN][1000 genomes]
rs7484480	0.86[ASN][1000 genomes]
rs7485438	0.86[ASN][1000 genomes]
rs7487330	0.86[ASN][1000 genomes]
rs7488808	0.86[ASN][1000 genomes]
rs7968688	0.86[ASN][1000 genomes]
rs8181772	0.86[ASN][1000 genomes]
rs8181788	0.86[ASN][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	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv559559	chr12:83505512-83765069	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1042674	chr12:83620899-83942628	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv428593	chr12:83648236-83761301	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv899353	chr12:83755861-83792347	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv899354	chr12:83755861-83813669	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4882383	NAV3	cis	parietal	SCAN
rs4882383	ALX1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83755200-83756200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:83755800-83760000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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