Variant report

Variant	rs11182812
Chromosome Location	chr12:45445754-45445755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10880727	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880728	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880729	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880731	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182770	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182771	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182772	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182785	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182789	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182790	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182791	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182792	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182793	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182796	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182798	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182806	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182807	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182809	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579006	1.00[EUR][1000 genomes]
rs12580562	1.00[EUR][1000 genomes]
rs12581653	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12581852	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581880	1.00[EUR][1000 genomes]
rs12582602	1.00[EUR][1000 genomes]
rs12829945	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3803172	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3803174	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3803175	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57726055	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59646766	0.81[ASN][1000 genomes]
rs7300104	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7315817	1.00[EUR][1000 genomes];1.00[ASN][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	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045857	chr12:45351172-45468784	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541485	chr12:45351172-45468784	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45443400-45445800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr12:45443400-45446000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:45443600-45445800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr12:45443800-45445800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:45444000-45445800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr12:45444000-45445800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:45444000-45445800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr12:45444000-45445800	Active TSS	Brain Angular Gyrus	brain
9	chr12:45444200-45445800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr12:45444200-45445800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr12:45444200-45446000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:45444600-45445800	Bivalent/Poised TSS	NH-A	brain
13	chr12:45444800-45445800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:45445200-45445800	Bivalent Enhancer	Fetal Brain Male	brain
15	chr12:45445200-45445800	Active TSS	Psoas Muscle	Psoas
16	chr12:45445200-45446000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:45445400-45445800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:45445400-45445800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr12:45445400-45445800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:45445400-45445800	Active TSS	Fetal Brain Female	brain
21	chr12:45445400-45446000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:45445600-45445800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr12:45445600-45445800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
24	chr12:45445600-45445800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:45445600-45445800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
26	chr12:45445600-45445800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
27	chr12:45445600-45445800	Bivalent Enhancer	NHEK	skin
28	chr12:45445600-45446000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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