Variant report

Variant	rs7280831
Chromosome Location	chr21:17780969-17780970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10470096	1.00[EUR][1000 genomes]
rs10470198	1.00[EUR][1000 genomes]
rs10470199	1.00[EUR][1000 genomes]
rs13433398	1.00[EUR][1000 genomes]
rs13433444	1.00[EUR][1000 genomes]
rs28415058	1.00[EUR][1000 genomes]
rs28608983	1.00[EUR][1000 genomes]
rs28858813	1.00[EUR][1000 genomes]
rs57454141	1.00[EUR][1000 genomes]
rs58225448	1.00[EUR][1000 genomes]
rs58236716	1.00[EUR][1000 genomes]
rs59574854	1.00[EUR][1000 genomes]
rs59656923	1.00[EUR][1000 genomes]
rs73370777	1.00[AMR][1000 genomes]
rs73370780	1.00[AMR][1000 genomes]
rs73891588	1.00[EUR][1000 genomes]
rs73891591	1.00[EUR][1000 genomes]
rs73891592	1.00[EUR][1000 genomes]
rs73893713	1.00[EUR][1000 genomes]
rs73893743	1.00[EUR][1000 genomes]
rs9305766	1.00[EUR][1000 genomes]
rs9305767	1.00[EUR][1000 genomes]
rs9305768	1.00[EUR][1000 genomes]
rs9305769	1.00[EUR][1000 genomes]
rs9974519	1.00[EUR][1000 genomes]
rs9975640	1.00[EUR][1000 genomes]
rs9976077	1.00[EUR][1000 genomes]
rs9978828	1.00[EUR][1000 genomes]
rs9979222	1.00[EUR][1000 genomes]
rs9979904	1.00[EUR][1000 genomes]
rs9981465	1.00[EUR][1000 genomes]
rs9981699	1.00[EUR][1000 genomes]
rs9983223	1.00[EUR][1000 genomes]
rs9983295	1.00[EUR][1000 genomes]
rs9983466	1.00[EUR][1000 genomes]
rs9984183	1.00[EUR][1000 genomes]
rs9984263	1.00[EUR][1000 genomes]
rs9984788	1.00[EUR][1000 genomes]
rs9985004	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv913418	chr21:17767773-17786219	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv979496	chr21:17772425-17789214	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv913419	chr21:17775056-17826260	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv470880	chr21:17777827-17820111	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv459100	chr21:17777966-17826260	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv587077	chr21:17777966-17826260	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv913420	chr21:17777966-17826260	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17771400-17791200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:17775400-17782200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:17775400-17786600	Weak transcription	Ovary	ovary
4	chr21:17775600-17786000	Weak transcription	Brain Anterior Caudate	brain
5	chr21:17775800-17782000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:17779000-17782000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:17780200-17781000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr21:17780200-17781200	Enhancers	NH-A	brain
9	chr21:17780400-17781000	Enhancers	Fetal Lung	lung
10	chr21:17780400-17781200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:17780600-17781200	Enhancers	Osteobl	bone
12	chr21:17780800-17781000	Enhancers	Liver	Liver

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