Variant report

Variant	rs1417743
Chromosome Location	chr1:223591692-223591693
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10796474	1.00[AMR][1000 genomes]
rs74148048	1.00[AMR][1000 genomes]
rs825138	0.91[AFR][1000 genomes]
rs825139	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv4687	chr1:223565080-223610362	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223590600-223593600	Enhancers	HepG2	liver
2	chr1:223590800-223592200	Enhancers	Fetal Heart	heart
3	chr1:223591000-223592600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:223591200-223595200	Enhancers	Pancreas	Pancrea
5	chr1:223591400-223592800	Enhancers	Ovary	ovary
6	chr1:223591600-223592000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:223591600-223592200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:223591600-223592400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:223591600-223592600	Enhancers	Right Atrium	heart
10	chr1:223591600-223592600	Enhancers	Right Ventricle	heart
11	chr1:223591600-223592800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:223591600-223594200	Weak transcription	Liver	Liver

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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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