Variant report

Variant	rs6998946
Chromosome Location	chr8:107472728-107472729
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10110667	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111145	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13439192	1.00[AMR][1000 genomes]
rs28459991	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28464065	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28581459	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28610156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28726251	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4289789	1.00[AMR][1000 genomes]
rs6469072	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6983162	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7003015	1.00[AMR][1000 genomes]
rs7008797	1.00[AMR][1000 genomes]
rs736260	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7838834	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7842907	0.89[AFR][1000 genomes];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	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv824701	chr8:107378298-107520063	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv611844	chr8:107440038-107494918	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107466000-107487000	Weak transcription	Aorta	Aorta
2	chr8:107467400-107473800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:107468600-107477800	Weak transcription	NHDF-Ad	bronchial
4	chr8:107469200-107473800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:107469600-107473400	Weak transcription	HUVEC	blood vessel
6	chr8:107471400-107472800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:107471600-107473000	Enhancers	NHEK	skin
8	chr8:107472400-107473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:107472400-107473800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:107472400-107474200	Weak transcription	HMEC	breast

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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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