Variant report

Variant	rs769970
Chromosome Location	chr1:56090514-56090515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10493193	0.97[EUR][1000 genomes]
rs10493194	0.97[EUR][1000 genomes]
rs10493195	0.98[EUR][1000 genomes]
rs11206626	0.97[EUR][1000 genomes]
rs11206627	0.97[EUR][1000 genomes]
rs11206635	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11805740	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12116670	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12117758	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12125730	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1846562	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1846563	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61566671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6588567	0.97[EUR][1000 genomes]
rs6670673	0.97[EUR][1000 genomes]
rs6680818	0.97[EUR][1000 genomes]
rs6681925	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6694680	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6694786	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7548272	0.97[EUR][1000 genomes]
rs7549716	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs769989	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56089000-56104000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:56089400-56091800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:56089400-56092400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:56089600-56090600	Enhancers	Fetal Lung	lung
5	chr1:56089600-56091600	Weak transcription	Fetal Kidney	kidney
6	chr1:56090200-56091200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:56090400-56092200	Enhancers	Adipose Derived Mesenchymal Stem Cell 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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