Variant report

Variant	rs1498853
Chromosome Location	chr3:69609107-69609108
allele	A/G
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:9)

rs_ID	r²[population]
rs288492	0.96[CEU][hapmap]
rs288494	0.96[CEU][hapmap]
rs288496	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs288505	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs288511	0.82[CEU][hapmap]
rs288512	1.00[CEU][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs288513	0.85[CEU][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap]
rs288514	0.85[CEU][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap]
rs4855421	0.81[CEU][hapmap];0.97[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3426797	chr3:69433086-69777229	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1004470	chr3:69597148-69728231	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	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	chr3:69604400-69612400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:69604400-69615200	Weak transcription	Spleen	Spleen
3	chr3:69607400-69611400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:69608200-69610600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr3:69608400-69609400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr3:69608400-69615400	Weak transcription	Right Ventricle	heart
7	chr3:69608600-69609400	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:69608600-69610000	Weak transcription	Brain Substantia Nigra	brain
9	chr3:69608600-69611400	Weak transcription	Brain Angular Gyrus	brain
10	chr3:69608800-69610000	Weak transcription	Fetal Lung	lung
11	chr3:69608800-69610400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:69608800-69611200	Weak transcription	Brain Anterior Caudate	brain
13	chr3:69608800-69615200	Weak transcription	Right Atrium	heart
14	chr3:69609000-69610000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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