Variant report

Variant	rs72954505
Chromosome Location	chr1:86378701-86378702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86373838..86377077-chr1:86378435..86381961,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs59726183	1.00[AMR][1000 genomes]
rs60642549	1.00[AMR][1000 genomes]
rs72952585	1.00[AMR][1000 genomes]
rs72952586	1.00[AMR][1000 genomes]
rs72952595	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952599	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954507	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954513	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954517	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954562	1.00[AMR][1000 genomes]
rs72954569	1.00[AMR][1000 genomes]
rs72954573	1.00[AMR][1000 genomes]
rs72954585	1.00[AMR][1000 genomes]
rs72954591	1.00[AMR][1000 genomes]
rs72954593	1.00[AMR][1000 genomes]
rs72954600	1.00[AMR][1000 genomes]
rs72954601	1.00[AMR][1000 genomes]
rs72956207	1.00[AMR][1000 genomes]
rs72956215	1.00[AMR][1000 genomes]
rs72956221	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	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
2	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
3	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
4	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
5	nsv871189	chr1:86315724-86402244	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1810714	chr1:86339811-86392577	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870724	chr1:86352810-86402244	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86366800-86386400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:86371600-86380800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:86373400-86382200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:86375000-86384800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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