Variant report

Variant	rs2618452
Chromosome Location	chr8:11375449-11375450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10091586	1.00[YRI][hapmap]
rs10095565	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2061832	0.82[AFR][1000 genomes]
rs2618453	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2618454	1.00[YRI][hapmap]
rs2736361	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7008451	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	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
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11357400-11380000	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr8:11368800-11375800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:11372000-11376000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:11372200-11386000	Weak transcription	Spleen	Spleen
5	chr8:11373000-11376600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:11373800-11376000	Strong transcription	GM12878-XiMat	blood
7	chr8:11374000-11376800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:11374400-11376000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:11374400-11376400	Weak transcription	Osteobl	bone
10	chr8:11374600-11375800	Strong transcription	Primary B cells from cord blood	blood
11	chr8:11374800-11381800	Weak transcription	HUVEC	blood vessel
12	chr8:11375000-11376200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:11375200-11375600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:11375400-11376200	Enhancers	Fetal Thymus	thymus

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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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