Variant report

Variant	rs1976349
Chromosome Location	chr3:69609751-69609752
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs288498	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73102144	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104110	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104139	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9828225	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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:13 , 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	chr3:69608400-69615400	Weak transcription	Right Ventricle	heart
6	chr3:69608600-69610000	Weak transcription	Brain Substantia Nigra	brain
7	chr3:69608600-69611400	Weak transcription	Brain Angular Gyrus	brain
8	chr3:69608800-69610000	Weak transcription	Fetal Lung	lung
9	chr3:69608800-69610400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:69608800-69611200	Weak transcription	Brain Anterior Caudate	brain
11	chr3:69608800-69615200	Weak transcription	Right Atrium	heart
12	chr3:69609000-69610000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:69609400-69609800	Enhancers	Monocytes-CD14+_RO01746	blood

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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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