Variant report

Variant	rs2618464
Chromosome Location	chr8:11363896-11363897
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10113720	1.00[EUR][1000 genomes]
rs13439390	1.00[EUR][1000 genomes]
rs17329884	1.00[ASN][1000 genomes]
rs2618461	1.00[ASN][1000 genomes]
rs2618463	1.00[ASN][1000 genomes]
rs2618465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2618466	1.00[ASN][1000 genomes]
rs28374288	1.00[ASN][1000 genomes]
rs28616741	1.00[EUR][1000 genomes]
rs28626552	1.00[EUR][1000 genomes]
rs28661309	1.00[EUR][1000 genomes]
rs57289063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981777	1.00[ASN][1000 genomes]
rs6994605	1.00[ASN][1000 genomes]
rs7017352	1.00[ASN][1000 genomes]
rs73663154	1.00[ASN][1000 genomes]
rs73663159	1.00[ASN][1000 genomes]

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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11353400-11367200	Enhancers	Fetal Thymus	thymus
2	chr8:11357400-11380000	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr8:11357800-11366600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:11358000-11364200	Genic enhancers	Primary B cells from cord blood	blood
5	chr8:11359400-11364600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:11359600-11364800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:11359600-11365400	Weak transcription	NHEK	skin
8	chr8:11360400-11364000	Enhancers	Dnd41	blood
9	chr8:11361400-11364400	Weak transcription	Spleen	Spleen
10	chr8:11363200-11364800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr8:11363400-11364600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:11363400-11364800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:11363400-11366200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:11363600-11364800	Flanking Active TSS	GM12878-XiMat	blood
15	chr8:11363800-11364000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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