Variant report

Variant	rs12366879
Chromosome Location	chr12:66989655-66989656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10506488	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10878459	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878461	0.86[ASN][1000 genomes]
rs10878462	0.87[ASN][1000 genomes]
rs10878463	0.86[ASN][1000 genomes]
rs11176301	0.90[ASN][1000 genomes]
rs11176302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176304	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176305	1.00[ASN][1000 genomes]
rs11176306	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176307	0.98[ASN][1000 genomes]
rs11176308	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11176311	0.86[ASN][1000 genomes]
rs11176316	0.86[ASN][1000 genomes]
rs11176317	0.86[ASN][1000 genomes]
rs11176318	0.87[ASN][1000 genomes]
rs11176326	0.83[ASN][1000 genomes]
rs11614834	0.83[ASN][1000 genomes]
rs12228012	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231318	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12579975	0.83[ASN][1000 genomes]
rs1493486	0.86[ASN][1000 genomes]
rs17181707	0.86[ASN][1000 genomes]
rs17779486	0.86[ASN][1000 genomes]
rs17779523	0.84[ASN][1000 genomes]
rs1948452	0.86[ASN][1000 genomes]
rs4453317	0.86[ASN][1000 genomes]
rs4627157	0.86[ASN][1000 genomes]
rs4913406	0.83[ASN][1000 genomes]
rs55743225	0.83[ASN][1000 genomes]
rs59153213	0.86[ASN][1000 genomes]
rs61926083	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926084	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61926085	0.98[ASN][1000 genomes]
rs61926087	0.86[ASN][1000 genomes]
rs6581706	0.86[ASN][1000 genomes]
rs7309000	0.87[ASN][1000 genomes]
rs7311948	0.86[ASN][1000 genomes]
rs7312025	0.86[ASN][1000 genomes]
rs7315608	0.86[ASN][1000 genomes]
rs7315622	0.86[ASN][1000 genomes]
rs7953062	0.86[ASN][1000 genomes]
rs7955693	0.87[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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3325978	chr12:66920993-67016708	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66981200-66993000	Weak transcription	Fetal Brain Female	brain
2	chr12:66983400-66994800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:66984000-66991200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:66984600-66994800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:66984800-66993800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:66985000-66991200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:66988400-66990800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:66988400-66990800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:66988400-66990800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:66988800-66989800	Weak transcription	HMEC	breast
11	chr12:66989000-66990000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:66989600-66990400	Enhancers	NHEK	skin
13	chr12:66989600-66990600	Enhancers	Muscle Satellite Cultured Cells	--

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