Variant report

Variant	rs72952517
Chromosome Location	chr1:86289523-86289524
allele	A/C
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:15)

rs_ID	r²[population]
rs58880785	0.91[AFR][1000 genomes]
rs60049801	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950656	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950659	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950687	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952505	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952509	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952522	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952527	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952539	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952540	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952546	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952549	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952559	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv546721	chr1:86226352-86392577	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv999743	chr1:86241246-86364846	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1011293	chr1:86270649-86416972	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86280000-86296600	Weak transcription	GM12878-XiMat	blood
2	chr1:86283600-86296400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86284000-86296400	Weak transcription	Fetal Lung	lung
4	chr1:86284200-86296400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:86284200-86296400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:86288200-86290400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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