Variant report

Variant	rs9984548
Chromosome Location	chr21:17790211-17790212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11088585	0.84[EUR][1000 genomes]
rs11911745	0.83[EUR][1000 genomes]
rs11911959	0.83[EUR][1000 genomes]
rs1349226	0.83[EUR][1000 genomes]
rs1375625	0.84[EUR][1000 genomes]
rs1375626	0.83[EUR][1000 genomes]
rs2017357	0.81[EUR][1000 genomes]
rs2051270	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs240453	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs240455	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs240459	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2823790	0.83[EUR][1000 genomes]
rs2823791	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2823798	0.84[EUR][1000 genomes]
rs2823799	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2823801	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3928806	0.83[EUR][1000 genomes]
rs57190849	0.85[EUR][1000 genomes]
rs61514219	0.83[EUR][1000 genomes]
rs8126683	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8126881	0.83[EUR][1000 genomes]
rs8128973	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9305765	0.85[EUR][1000 genomes]
rs996175	0.84[EUR][1000 genomes]
rs9979472	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9980917	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	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
6	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
7	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
8	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
9	nsv913421	chr21:17786219-17826260	Enhancers Active TSS Flanking Active TSS 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:18 , 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	chr21:17781200-17790400	Weak transcription	NH-A	brain
3	chr21:17788400-17790600	Weak transcription	Right Atrium	heart
4	chr21:17788400-17790800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:17788600-17790400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr21:17788600-17790600	Weak transcription	Brain Angular Gyrus	brain
7	chr21:17788800-17791000	Weak transcription	Ovary	ovary
8	chr21:17789400-17791200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr21:17789600-17790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr21:17789600-17791000	Enhancers	Fetal Brain Male	brain
11	chr21:17789600-17791400	Enhancers	Brain Hippocampus Middle	brain
12	chr21:17789800-17790800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:17790000-17790400	Weak transcription	Brain Germinal Matrix	brain
14	chr21:17790000-17790600	Enhancers	Brain Anterior Caudate	brain
15	chr21:17790000-17791400	Enhancers	Brain Substantia Nigra	brain
16	chr21:17790200-17790400	Enhancers	Osteobl	bone
17	chr21:17790200-17790800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:17790200-17791400	Enhancers	Liver	Liver

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