Variant report

Variant	rs11910514
Chromosome Location	chr21:17659476-17659477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr21:17659287-17659871	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000201025	TF binding region

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

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

rs_ID	r²[population]
rs10482879	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	0.83[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
rs11910514	C21orf91	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17634800-17667000	Weak transcription	Hela-S3	cervix
2	chr21:17654800-17666600	Weak transcription	Fetal Heart	heart
3	chr21:17656800-17663000	Weak transcription	Liver	Liver
4	chr21:17658400-17670200	Weak transcription	Fetal Muscle Leg	muscle
5	chr21:17658600-17659600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr21:17658600-17659600	Enhancers	Brain Angular Gyrus	brain
7	chr21:17658600-17659600	Enhancers	Brain Cingulate Gyrus	brain
8	chr21:17658600-17660000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:17658600-17674800	Weak transcription	Brain Hippocampus Middle	brain
10	chr21:17658600-17675200	Weak transcription	Ovary	ovary
11	chr21:17658800-17659600	Enhancers	Brain Substantia Nigra	brain
12	chr21:17658800-17661000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:17658800-17675200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr21:17659000-17659600	Enhancers	Adipose Nuclei	Adipose
15	chr21:17659000-17659800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:17659200-17659600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:17659200-17659600	Active TSS	Brain Anterior Caudate	brain
18	chr21:17659200-17660000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:17659400-17659600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr21:17659400-17659600	Enhancers	Fetal Lung	lung
21	chr21:17659400-17659600	Enhancers	HSMMtube	muscle
22	chr21:17659400-17659600	Enhancers	Osteobl	bone

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