Variant report

Variant	rs12311664
Chromosome Location	chr12:66989085-66989086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10467149	0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs11176256	1.00[AMR][1000 genomes]
rs11176257	1.00[AMR][1000 genomes]
rs11176295	1.00[AMR][1000 genomes]
rs11176296	1.00[AMR][1000 genomes]
rs11176361	0.80[AFR][1000 genomes]
rs11504204	1.00[AMR][1000 genomes]
rs12297649	1.00[AMR][1000 genomes]
rs12300343	0.80[AFR][1000 genomes]
rs12309622	1.00[AMR][1000 genomes]
rs12309778	1.00[AMR][1000 genomes]
rs12309896	1.00[AMR][1000 genomes]
rs12313212	1.00[AMR][1000 genomes]
rs12319060	1.00[AMR][1000 genomes]
rs12319603	1.00[AMR][1000 genomes]
rs12321077	1.00[AMR][1000 genomes]
rs12321492	1.00[AMR][1000 genomes]
rs12321495	1.00[AMR][1000 genomes]
rs12321549	1.00[AMR][1000 genomes]
rs13377630	1.00[AMR][1000 genomes]
rs13377875	1.00[AMR][1000 genomes]
rs13378006	1.00[AMR][1000 genomes]
rs17102568	1.00[AMR][1000 genomes]
rs17102569	1.00[AMR][1000 genomes]
rs1813738	1.00[AMR][1000 genomes]
rs1908122	1.00[AMR][1000 genomes]
rs2009924	1.00[AMR][1000 genomes]
rs57630867	1.00[AMR][1000 genomes]
rs58011515	1.00[AMR][1000 genomes]
rs58314154	1.00[AMR][1000 genomes]
rs58520471	1.00[AMR][1000 genomes]
rs59000682	1.00[AMR][1000 genomes]
rs59253853	1.00[AMR][1000 genomes]
rs60150269	1.00[AMR][1000 genomes]
rs60436125	1.00[AMR][1000 genomes]
rs60605218	1.00[AMR][1000 genomes]
rs60935597	1.00[AMR][1000 genomes]
rs61448698	1.00[AMR][1000 genomes]
rs7974745	1.00[AMR][1000 genomes]
rs7974896	1.00[AMR][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	chr12:66988400-66989200	Enhancers	NHEK	skin
8	chr12:66988400-66990800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:66988400-66990800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:66988400-66990800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:66988600-66989600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:66988800-66989800	Weak transcription	HMEC	breast
13	chr12:66989000-66990000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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