Variant report

Variant	rs73117543
Chromosome Location	chr1:221775112-221775113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56740608	1.00[AMR][1000 genomes]
rs57715531	1.00[AMR][1000 genomes]
rs57966484	1.00[AMR][1000 genomes]
rs58909975	1.00[AMR][1000 genomes]
rs61507809	1.00[AFR][1000 genomes]
rs73108905	1.00[AMR][1000 genomes]
rs73108910	1.00[AMR][1000 genomes]
rs73108925	1.00[AMR][1000 genomes]
rs73108947	1.00[AMR][1000 genomes]
rs73108957	1.00[AMR][1000 genomes]
rs73115363	1.00[AMR][1000 genomes]
rs73115368	1.00[AMR][1000 genomes]
rs73115373	1.00[AMR][1000 genomes]
rs73115380	1.00[AMR][1000 genomes]
rs73115383	1.00[AMR][1000 genomes]
rs73117537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73117544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73121116	1.00[AMR][1000 genomes]
rs73121119	1.00[AMR][1000 genomes]
rs73121125	1.00[AMR][1000 genomes]
rs73123136	1.00[AMR][1000 genomes]
rs73123141	1.00[AMR][1000 genomes]
rs73123147	1.00[AMR][1000 genomes]
rs73123162	1.00[AMR][1000 genomes]
rs73123166	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1808490	chr1:221743979-221779026	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011037	chr1:221756526-221809552	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221771800-221784600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:221772000-221779000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:221774200-221775400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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