Variant report

Variant	rs726960
Chromosome Location	chr8:119154296-119154297
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10102634	0.94[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10106398	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1563564	0.94[CEU][hapmap];0.86[GIH][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs17454315	0.94[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2451140	0.88[CEU][hapmap]
rs2451143	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs2468139	0.93[CEU][hapmap];0.88[TSI][hapmap]
rs2468154	0.94[CEU][hapmap];0.82[GIH][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs2514760	0.94[CEU][hapmap];0.86[GIH][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs2514761	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs28421966	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7826515	0.81[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs726960	SNTB1	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119151000-119155800	Enhancers	NHLF	lung
2	chr8:119151200-119158000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:119151600-119155400	Enhancers	Osteobl	bone
4	chr8:119151600-119157200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:119151800-119156600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:119152000-119156400	Enhancers	HMEC	breast
7	chr8:119152200-119154800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:119152200-119156200	Enhancers	Hela-S3	cervix
9	chr8:119152200-119157800	Enhancers	NHEK	skin
10	chr8:119152200-119158000	Weak transcription	Lung	lung
11	chr8:119152400-119154800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:119152400-119157200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:119152800-119154600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:119153000-119154600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:119153600-119154600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:119153600-119154800	Weak transcription	NH-A	brain
17	chr8:119153800-119154800	Weak transcription	Fetal Lung	lung
18	chr8:119154000-119154400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:119154000-119156400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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