Variant report

Variant	rs62489341
Chromosome Location	chr8:11582214-11582215
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56745056	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62489315	1.00[EUR][1000 genomes]
rs62489316	1.00[EUR][1000 genomes]
rs62489318	1.00[EUR][1000 genomes]
rs62489320	1.00[EUR][1000 genomes]
rs62489321	1.00[EUR][1000 genomes]
rs62489323	1.00[EUR][1000 genomes]
rs62489324	1.00[EUR][1000 genomes]
rs62489340	1.00[EUR][1000 genomes]
rs62489342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62489346	1.00[EUR][1000 genomes]
rs62489347	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62489350	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62489351	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832153	1.00[EUR][1000 genomes]
rs7844208	1.00[EUR][1000 genomes]
rs7845076	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11576200-11584800	Enhancers	Liver	Liver
2	chr8:11577600-11582600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:11580000-11582800	Enhancers	Ovary	ovary
4	chr8:11580200-11582600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:11580800-11585200	Enhancers	Right Ventricle	heart
6	chr8:11581000-11586800	Enhancers	Left Ventricle	heart
7	chr8:11581200-11583400	Weak transcription	Stomach Mucosa	stomach
8	chr8:11581200-11583600	Strong transcription	Fetal Intestine Small	intestine
9	chr8:11581400-11584800	Genic enhancers	Gastric	stomach
10	chr8:11581400-11585000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr8:11581800-11585000	Genic enhancers	HepG2	liver
12	chr8:11582000-11582600	Genic enhancers	Pancreas	Pancrea
13	chr8:11582000-11584600	Enhancers	Right Atrium	heart
14	chr8:11582200-11582400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:11582200-11583200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr8:11582200-11587200	Enhancers	Fetal Heart	heart

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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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