Variant report

Variant	rs73406847
Chromosome Location	chr8:130815889-130815890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16904154	1.00[AMR][1000 genomes]
rs16904155	1.00[AMR][1000 genomes]
rs55732450	0.83[AMR][1000 genomes]
rs59439273	1.00[AMR][1000 genomes]
rs60814482	1.00[AMR][1000 genomes]
rs60828490	1.00[AMR][1000 genomes]
rs73406852	1.00[AMR][1000 genomes]
rs73406872	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406873	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406877	1.00[AMR][1000 genomes]
rs73710909	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710936	1.00[AMR][1000 genomes]
rs73710937	1.00[AMR][1000 genomes]
rs73710938	1.00[AMR][1000 genomes]
rs73710953	1.00[AMR][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	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv522535	chr8:130804293-130844400	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv526686	chr8:130808973-130839132	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130813400-130816000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:130814400-130820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130814800-130816000	Enhancers	Left Ventricle	heart
4	chr8:130814800-130816200	Enhancers	Right Atrium	heart
5	chr8:130815200-130816000	Enhancers	Adipose Nuclei	Adipose
6	chr8:130815200-130816000	Enhancers	Spleen	Spleen
7	chr8:130815200-130816200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:130815200-130816400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr8:130815400-130816000	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:130815400-130816000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:130815400-130816200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:130815400-130816200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:130815400-130820200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr8:130815800-130816200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:130815800-130816400	Enhancers	NHEK	skin

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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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