Variant report

Variant	rs12469743
Chromosome Location	chr2:112007943-112007944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10864954	0.87[ASN][1000 genomes]
rs11123416	0.87[ASN][1000 genomes]
rs11885007	0.89[ASN][1000 genomes]
rs17041941	0.91[ASN][1000 genomes]
rs35718992	0.95[ASN][1000 genomes]
rs4374378	0.87[ASN][1000 genomes]
rs4510233	0.81[ASN][1000 genomes]
rs4637127	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62160380	0.87[ASN][1000 genomes]
rs62160440	0.81[ASN][1000 genomes]
rs66494224	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6748319	0.91[ASN][1000 genomes]
rs68155163	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv874843	chr2:111966947-112023328	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv821628	chr2:111993557-112248408	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv469744	chr2:111998860-112173634	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
10	nsv482567	chr2:111998860-112173634	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
11	nsv874844	chr2:112000058-112143413	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
12	nsv874845	chr2:112000058-112182093	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
13	nsv874846	chr2:112000058-112373169	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
14	esv1792355	chr2:112002130-112091845	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
15	esv1794590	chr2:112005278-112369881	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
16	esv3400470	chr2:112007812-112008052	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111975200-112008200	Weak transcription	Pancreas	Pancrea
2	chr2:111977600-112011400	Weak transcription	A549	lung
3	chr2:111985800-112009600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:111993200-112008200	Weak transcription	Aorta	Aorta
5	chr2:111993200-112008200	Weak transcription	Lung	lung
6	chr2:111994000-112009600	Weak transcription	Left Ventricle	heart
7	chr2:111996400-112009000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:111997000-112008200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:112002600-112008200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:112004600-112009200	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:112005200-112009000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:112005600-112008200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:112005600-112008200	Weak transcription	NHDF-Ad	bronchial
14	chr2:112005600-112008600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:112005600-112009000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:112005600-112015800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:112005800-112009000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:112006000-112008600	Weak transcription	NHLF	lung
19	chr2:112006200-112008000	Weak transcription	HSMM	muscle
20	chr2:112006200-112008000	Weak transcription	Osteobl	bone
21	chr2:112006200-112009000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:112006200-112009400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:112006200-112020200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:112006400-112009000	Weak transcription	NHEK	skin
25	chr2:112006400-112011600	Weak transcription	NH-A	brain
26	chr2:112006600-112008200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:112006600-112008400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:112006600-112009000	Weak transcription	Dnd41	blood
29	chr2:112006600-112009000	Weak transcription	K562	blood
30	chr2:112006800-112008200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:112006800-112008200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:112006800-112011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:112007200-112008800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:112007600-112008600	Enhancers	Ovary	ovary
35	chr2:112007800-112008400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:112007800-112008800	Enhancers	HepG2	liver
37	chr2:112007800-112009400	Enhancers	HSMMtube	muscle

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