Variant report

Variant	rs73117560
Chromosome Location	chr1:221787604-221787605
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs57966484	0.90[AFR][1000 genomes]
rs58446643	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58995244	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61101563	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61507809	1.00[AMR][1000 genomes]
rs61692302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73117561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73117564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73117573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73117575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73117576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73119195	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73121106	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73121110	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73121111	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73121113	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73121116	0.81[AFR][1000 genomes]
rs73121119	0.81[AFR][1000 genomes]
rs73121125	0.81[AFR][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	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	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221786200-221791800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221786200-221794200	Weak transcription	Psoas Muscle	Psoas
3	chr1:221786800-221788800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:221787200-221787800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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