Variant report

Variant	rs11064789
Chromosome Location	chr12:119853676-119853677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11064756	0.83[CEU][hapmap]
rs11064767	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11064768	0.89[GIH][hapmap]
rs11064772	0.89[GIH][hapmap]
rs11064773	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11064776	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11064778	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11064779	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11064782	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064785	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064787	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12367014	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12367044	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12367962	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12368789	0.85[CEU][hapmap]
rs12368799	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12370095	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12371440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4471499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7306221	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7308840	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7312409	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7959781	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7971064	0.85[CEU][hapmap]
rs7972234	0.85[CEU][hapmap]
rs7973310	0.85[CEU][hapmap]
rs7977458	1.00[ASW][hapmap];0.85[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap]
rs7980254	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]

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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899553	chr12:119837250-119876571	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11064789	RHOF	cis	cerebellum	SCAN
rs11064789	NCRNA00262	cis	cerebellum	SCAN
rs11064789	TMEM120B	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119851600-119872400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:119853400-119853800	Enhancers	Dnd41	blood
3	chr12:119853600-119855400	Weak transcription	Rectal Mucosa Donor 31	rectum

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