Variant report

Variant	rs74097607
Chromosome Location	chr1:86341443-86341444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11161675	0.88[AFR][1000 genomes]
rs12088397	0.88[AFR][1000 genomes]
rs2062027	0.86[AFR][1000 genomes]
rs55929629	1.00[AFR][1000 genomes]
rs56002647	0.91[AFR][1000 genomes]
rs61687099	0.91[AFR][1000 genomes]
rs74097090	0.81[AFR][1000 genomes]
rs74097603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097605	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9943196	0.91[AFR][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	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
4	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
5	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
6	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
7	esv1810714	chr1:86339811-86392577	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86331400-86341600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:86333200-86343800	Weak transcription	GM12878-XiMat	blood
3	chr1:86339400-86342600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:86339600-86342400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:86339800-86342400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:86341200-86343600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:86341200-86347000	Weak transcription	Fetal Lung	lung

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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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