Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10161247	1.00[EUR][1000 genomes]
rs10876831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171622	1.00[EUR][1000 genomes]
rs11171643	1.00[EUR][1000 genomes]
rs11171645	1.00[EUR][1000 genomes]
rs12299176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301775	1.00[EUR][1000 genomes]
rs12303548	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305769	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12306327	1.00[EUR][1000 genomes]
rs12313935	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12314803	1.00[EUR][1000 genomes]
rs12578161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12580351	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12580355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17120033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17120045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36194114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973424	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv832422	chr12:55832210-56001052	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv973201	chr12:55974291-56000681	Weak transcription Active TSS Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2508562	chr12:55975561-55977015	Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
6	nsv469409	chr12:55975841-55978970	Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
7	nsv559003	chr12:55975841-55978970	Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:55974400-55976000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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