Variant report

Variant	rs2898292
Chromosome Location	chr8:11582929-11582930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10090884	0.88[MEX][hapmap];0.82[AMR][1000 genomes]
rs10096189	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11250159	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17153694	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2001469	0.80[EUR][1000 genomes]
rs2001470	0.82[GIH][hapmap];0.82[AMR][1000 genomes];0.80[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2898292	SOX7	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11576200-11584800	Enhancers	Liver	Liver
2	chr8:11580800-11585200	Enhancers	Right Ventricle	heart
3	chr8:11581000-11586800	Enhancers	Left Ventricle	heart
4	chr8:11581200-11583400	Weak transcription	Stomach Mucosa	stomach
5	chr8:11581200-11583600	Strong transcription	Fetal Intestine Small	intestine
6	chr8:11581400-11584800	Genic enhancers	Gastric	stomach
7	chr8:11581400-11585000	Strong transcription	Duodenum Mucosa	Duodenum
8	chr8:11581800-11585000	Genic enhancers	HepG2	liver
9	chr8:11582000-11584600	Enhancers	Right Atrium	heart
10	chr8:11582200-11583200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr8:11582200-11587200	Enhancers	Fetal Heart	heart
12	chr8:11582400-11583400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr8:11582400-11583600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:11582600-11584800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:11582600-11584800	Bivalent Enhancer	Placenta	Placenta
16	chr8:11582600-11585000	Enhancers	Pancreas	Pancrea
17	chr8:11582600-11589000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:11582800-11583200	Flanking Active TSS	Ovary	ovary

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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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