Variant report

Variant	rs2445908
Chromosome Location	chr8:119151423-119151424
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1457202	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2445910	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2451133	0.91[ASW][hapmap];0.88[CHD][hapmap];0.96[LWK][hapmap];0.88[MKK][hapmap];0.83[AFR][1000 genomes]
rs2451142	0.81[AFR][1000 genomes]
rs2468136	0.91[ASW][hapmap];0.88[CHD][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.83[AFR][1000 genomes]
rs2468137	0.85[CHD][hapmap]
rs2468156	0.83[ASW][hapmap];0.91[CHD][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.81[AFR][1000 genomes]
rs2514730	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2514757	0.88[CHD][hapmap]
rs2514759	0.91[CHD][hapmap];0.86[MKK][hapmap]
rs2514765	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs897829	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119147200-119151600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:119147400-119151800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:119147400-119152200	Weak transcription	NHEK	skin
4	chr8:119149200-119153800	Enhancers	Fetal Lung	lung
5	chr8:119150800-119152400	Enhancers	Fetal Stomach	stomach
6	chr8:119151000-119151800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:119151000-119152000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:119151000-119152200	Enhancers	Aorta	Aorta
9	chr8:119151000-119152200	Enhancers	Lung	lung
10	chr8:119151000-119152400	Enhancers	Ovary	ovary
11	chr8:119151000-119152800	Enhancers	Fetal Muscle Leg	muscle
12	chr8:119151000-119153600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:119151000-119154000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:119151000-119155800	Enhancers	NHLF	lung
15	chr8:119151200-119152400	Weak transcription	Placenta	Placenta
16	chr8:119151200-119153600	Enhancers	NH-A	brain
17	chr8:119151200-119158000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:119151400-119152200	Enhancers	Adipose Nuclei	Adipose
19	chr8:119151400-119153200	Enhancers	NHDF-Ad	bronchial

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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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