Variant report

Variant	rs9497718
Chromosome Location	chr6:147499488-147499489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11965185	1.00[AMR][1000 genomes]
rs56700189	1.00[AMR][1000 genomes]
rs56989474	1.00[AMR][1000 genomes]
rs57233238	1.00[AMR][1000 genomes]
rs57284678	1.00[AMR][1000 genomes]
rs57356769	1.00[AMR][1000 genomes]
rs57807457	1.00[AMR][1000 genomes]
rs58453975	1.00[AMR][1000 genomes]
rs58756001	1.00[AMR][1000 genomes]
rs60426717	1.00[AMR][1000 genomes]
rs61377514	1.00[AMR][1000 genomes]
rs9497716	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497717	1.00[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	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147492000-147511400	Weak transcription	Aorta	Aorta
2	chr6:147494800-147500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:147498400-147500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:147498600-147499800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:147498800-147500200	Weak transcription	K562	blood
6	chr6:147499000-147501200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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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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