Variant report

Variant	rs809491
Chromosome Location	chr1:56073100-56073101
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1006806	0.80[AFR][1000 genomes]
rs1081177	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1165464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1165470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1304159	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1695953	0.80[AFR][1000 genomes]
rs769969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs769972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs769980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs769985	1.00[AMR][1000 genomes]
rs769987	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs769988	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs769990	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs769993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs769994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs984446	1.00[AFR][1000 genomes];1.00[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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1014866	chr1:56059054-56129092	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56059600-56076000	Weak transcription	Aorta	Aorta
2	chr1:56063200-56089000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:56070200-56076200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:56070600-56076000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:56071600-56076400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:56072800-56076000	Weak transcription	Ovary	ovary

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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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