Variant report

Variant	rs72894320
Chromosome Location	chr1:45889168-45889169
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:28)

rs_ID	r²[population]
rs11803788	1.00[AMR][1000 genomes]
rs11808204	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55680990	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55812863	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59796793	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60136496	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61281143	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61325888	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659464	1.00[AMR][1000 genomes]
rs6661693	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665790	1.00[AMR][1000 genomes]
rs6691750	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694590	1.00[AMR][1000 genomes]
rs72892506	1.00[AMR][1000 genomes]
rs72892519	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72892536	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72892538	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72892542	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894327	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894331	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894333	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894338	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894353	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72896187	1.00[AMR][1000 genomes]
rs7514911	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7536005	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538197	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7551168	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2750837	chr1:45796115-45908263	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
7	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
8	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45841400-45889200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:45875600-45889400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:45877400-45889200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:45877600-45889600	Weak transcription	Placenta	Placenta
5	chr1:45879800-45889200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:45880200-45895600	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:45880800-45890000	Weak transcription	Brain Substantia Nigra	brain
8	chr1:45884600-45910600	Weak transcription	Ovary	ovary
9	chr1:45885400-45890200	Weak transcription	Left Ventricle	heart
10	chr1:45886000-45889800	Weak transcription	Gastric	stomach
11	chr1:45886800-45908200	Weak transcription	Fetal Intestine Small	intestine
12	chr1:45887000-45889600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:45887200-45895400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:45887600-45909200	Weak transcription	Liver	Liver
15	chr1:45888000-45890000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:45888000-45890000	Weak transcription	Fetal Lung	lung
17	chr1:45888000-45895600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:45888000-45910000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:45888200-45920600	Weak transcription	Primary B cells from cord blood	blood
20	chr1:45889000-45897400	Weak transcription	Brain Angular Gyrus	brain

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