Variant report

Variant	rs11993461
Chromosome Location	chr8:117892117-117892118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000147677	Chromatin interaction
ENSG00000164754	Chromatin interaction
ENSG00000147679	Chromatin interaction
ENSG00000264875	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11984783	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11986244	1.00[AMR][1000 genomes]
rs11988252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988890	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11992843	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995008	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996899	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11998115	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888867	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888873	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888957	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888968	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888995	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889027	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889160	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17435839	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34316616	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58084260	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61637286	0.89[AFR][1000 genomes];1.00[AMR][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891407	chr8:117881393-117895239	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv891408	chr8:117884270-117895239	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117889800-117892200	Enhancers	GM12878-XiMat	blood
2	chr8:117890600-117892800	Enhancers	NHLF	lung
3	chr8:117891000-117892800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:117891800-117893200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:117892000-117893600	Flanking Active TSS	Dnd41	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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