Variant report

Variant	rs72890601
Chromosome Location	chr1:45836536-45836537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1007005	1.00[AMR][1000 genomes]
rs1561794	1.00[AMR][1000 genomes]
rs1892476	1.00[AMR][1000 genomes]
rs2211646	1.00[AMR][1000 genomes]
rs3219497	1.00[AMR][1000 genomes]
rs58600794	1.00[AMR][1000 genomes]
rs58829168	1.00[AMR][1000 genomes]
rs59089628	1.00[AMR][1000 genomes]
rs59351600	1.00[AMR][1000 genomes]
rs59975097	1.00[AMR][1000 genomes]
rs60789611	1.00[AMR][1000 genomes]
rs72890576	1.00[AMR][1000 genomes]
rs72892514	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72892526	1.00[AMR][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:13 , 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	chr1:45827200-45842000	Weak transcription	Right Atrium	heart
4	chr1:45827600-45839400	Weak transcription	Liver	Liver
5	chr1:45828000-45839200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:45834200-45841200	Weak transcription	Aorta	Aorta
7	chr1:45836000-45837400	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:45836200-45836600	Enhancers	Left Ventricle	heart
9	chr1:45836200-45836800	Enhancers	Primary B cells from cord blood	blood
10	chr1:45836200-45837200	Flanking Active TSS	GM12878-XiMat	blood
11	chr1:45836400-45837000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:45836400-45837200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:45836400-45837200	Enhancers	Primary neutrophils fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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