Variant report

Variant	rs12627253
Chromosome Location	chr21:17799349-17799350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11909839	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12482089	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1449517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1992970	0.96[ASN][1000 genomes]
rs1992971	0.98[ASN][1000 genomes]
rs2823792	0.88[AFR][1000 genomes]
rs3737408	0.90[AFR][1000 genomes]
rs59430518	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
10	nsv913422	chr21:17791751-17826260	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv459101	chr21:17794432-17819036	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv587078	chr21:17794432-17819036	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17795400-17803200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:17796000-17800800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr21:17797200-17799600	Enhancers	Hela-S3	cervix
4	chr21:17797200-17799800	Enhancers	NH-A	brain
5	chr21:17797200-17803200	Weak transcription	Colon Smooth Muscle	Colon
6	chr21:17797200-17813000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr21:17797200-17813400	Weak transcription	Fetal Muscle Leg	muscle
8	chr21:17797400-17800400	Weak transcription	HSMM	muscle
9	chr21:17797600-17799600	Weak transcription	Brain Substantia Nigra	brain
10	chr21:17797600-17800000	Weak transcription	Liver	Liver
11	chr21:17797800-17808400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr21:17798200-17799400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr21:17798400-17799800	Enhancers	Fetal Heart	heart
14	chr21:17798800-17799800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr21:17799000-17799600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr21:17799000-17800800	Active TSS	Ovary	ovary
17	chr21:17799200-17799400	Enhancers	Fetal Lung	lung
18	chr21:17799200-17799600	Enhancers	Psoas Muscle	Psoas
19	chr21:17799200-17799600	Enhancers	A549	lung
20	chr21:17799200-17799600	Enhancers	HUVEC	blood vessel
21	chr21:17799200-17799800	Enhancers	Brain Anterior Caudate	brain

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