Variant report

Variant	rs7541996
Chromosome Location	chr1:86203870-86203871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs55863151	1.00[AMR][1000 genomes]
rs56276114	0.83[AMR][1000 genomes]
rs56884931	1.00[AMR][1000 genomes]
rs57768694	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60184734	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61168883	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61328391	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6699712	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944688	1.00[AMR][1000 genomes]
rs72944702	1.00[AMR][1000 genomes]
rs74097059	1.00[AMR][1000 genomes]
rs74097060	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097061	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097066	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097067	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097075	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097079	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097081	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097082	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097084	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097085	1.00[AMR][1000 genomes]
rs7530774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538740	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv871471	chr1:86143084-86211516	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 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	chr1:86191600-86210400	Weak transcription	Fetal Lung	lung
2	chr1:86196400-86205600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:86196600-86208200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:86199000-86211600	Weak transcription	GM12878-XiMat	blood
5	chr1:86202400-86209400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:86202800-86204200	Weak 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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