Variant report

Variant	rs10482879
Chromosome Location	chr21:17659073-17659074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11910514	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2823742	0.80[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	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10482879	C21orf91	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17634800-17667000	Weak transcription	Hela-S3	cervix
2	chr21:17653200-17659200	Weak transcription	Aorta	Aorta
3	chr21:17654800-17666600	Weak transcription	Fetal Heart	heart
4	chr21:17656800-17659200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:17656800-17663000	Weak transcription	Liver	Liver
6	chr21:17657000-17659400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:17657600-17659400	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr21:17657800-17659200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:17657800-17659200	Enhancers	NH-A	brain
10	chr21:17658400-17659200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr21:17658400-17670200	Weak transcription	Fetal Muscle Leg	muscle
12	chr21:17658600-17659400	Enhancers	Brain Germinal Matrix	brain
13	chr21:17658600-17659400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr21:17658600-17659600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr21:17658600-17659600	Enhancers	Brain Angular Gyrus	brain
16	chr21:17658600-17659600	Enhancers	Brain Cingulate Gyrus	brain
17	chr21:17658600-17660000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:17658600-17674800	Weak transcription	Brain Hippocampus Middle	brain
19	chr21:17658600-17675200	Weak transcription	Ovary	ovary
20	chr21:17658800-17659400	Weak transcription	Fetal Lung	lung
21	chr21:17658800-17659600	Enhancers	Brain Substantia Nigra	brain
22	chr21:17658800-17661000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr21:17658800-17675200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr21:17659000-17659200	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr21:17659000-17659200	Enhancers	Rectal Smooth Muscle	rectum
26	chr21:17659000-17659600	Enhancers	Adipose Nuclei	Adipose
27	chr21:17659000-17659800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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