Variant report

Variant	rs72892519
Chromosome Location	chr1:45858705-45858706
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45849151..45851043-chr1:45857348..45859085,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11803788	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11808204	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55680990	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55812863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59796793	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60136496	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61281143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61325888	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659464	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661693	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665790	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6691750	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694590	1.00[AMR][1000 genomes]
rs72892506	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72892536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72892538	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72892542	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894320	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894327	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894331	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894338	0.89[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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7536005	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538197	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7551168	0.99[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	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45826200-45867200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:45827000-45859000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:45841400-45889200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:45842200-45859000	Weak transcription	Right Atrium	heart
5	chr1:45853400-45861200	Weak transcription	HepG2	liver
6	chr1:45855000-45860000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:45857400-45859800	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:45858400-45858800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:45858400-45860600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr1:45858400-45860800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:45858400-45861000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:45858400-45861600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:45858600-45858800	Enhancers	GM12878-XiMat	blood
14	chr1:45858600-45859200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:45858600-45859200	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:45858600-45859200	Enhancers	Stomach Mucosa	stomach
17	chr1:45858600-45859400	Enhancers	HUVEC	blood vessel
18	chr1:45858600-45859600	Enhancers	Primary B cells from cord blood	blood

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