Variant report

Variant	rs281830
Chromosome Location	chr12:41536945-41536946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10879858	0.84[CHB][hapmap]
rs10879867	0.84[CHB][hapmap]
rs11180448	0.89[JPT][hapmap]
rs12829840	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1431104	0.84[CHB][hapmap]
rs1431112	0.84[CHB][hapmap]
rs1864611	0.84[CHB][hapmap]
rs1864613	0.84[CHB][hapmap]
rs2163416	0.92[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs281832	0.89[ASN][1000 genomes]
rs281839	0.87[ASN][1000 genomes]
rs281840	0.85[ASN][1000 genomes]
rs281843	0.85[ASN][1000 genomes]
rs4768334	0.86[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6582240	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs7303285	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs7305919	0.85[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7342366	0.84[CHB][hapmap]
rs776560	0.90[ASN][1000 genomes]
rs776561	0.90[ASN][1000 genomes]
rs776562	0.88[ASN][1000 genomes]
rs975602	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1048124	chr12:41499221-41585315	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
6	nsv684	chr12:41499912-41545039	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
7	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2760256	chr12:41525540-41542361	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41534800-41538600	Weak transcription	Aorta	Aorta

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