Variant report

Variant	rs12227680
Chromosome Location	chr12:41827060-41827061
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr12:41826716-41828594	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr12:41826977-41827730	H1-neurons	neurons:	n/a	n/a
3	REST	chr12:41827004-41827747	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
PDZRN4	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10506193	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880089	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880091	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880093	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880095	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880096	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180853	1.00[CHB][hapmap]
rs11180882	1.00[CHB][hapmap]
rs11180979	1.00[CHB][hapmap]
rs11180980	1.00[JPT][hapmap]
rs11180981	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180984	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12229610	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12230775	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12427081	1.00[CHB][hapmap]
rs1350431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1458169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1589983	1.00[CHB][hapmap]
rs1902908	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2054211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs285586	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs285587	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3110389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66562278	0.91[ASN][1000 genomes]
rs67859259	0.91[ASN][1000 genomes]
rs7974539	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1037987	chr12:41815867-41840251	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41823200-41829800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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