Variant report

Variant	rs6984116
Chromosome Location	chr8:52292197-52292198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28414196	0.82[AFR][1000 genomes]
rs28421473	0.82[AFR][1000 genomes]
rs28696687	0.82[AFR][1000 genomes]
rs57622227	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58585006	0.82[AFR][1000 genomes]
rs60447624	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60457676	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6986369	0.82[AFR][1000 genomes]
rs7009718	0.82[AFR][1000 genomes]
rs73579637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579644	0.91[AFR][1000 genomes]
rs73579645	0.91[AFR][1000 genomes]
rs73579680	0.82[AFR][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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52284600-52294400	Weak transcription	Right Ventricle	heart
2	chr8:52284600-52296000	Weak transcription	Left Ventricle	heart
3	chr8:52290600-52295800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:52291400-52294800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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