Variant report

Variant	rs28496427
Chromosome Location	chr21:17848593-17848594
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10084567	1.00[EUR][1000 genomes]
rs10084608	1.00[EUR][1000 genomes]
rs10084612	1.00[EUR][1000 genomes]
rs12482215	1.00[EUR][1000 genomes]
rs12482914	1.00[EUR][1000 genomes]
rs12483358	1.00[EUR][1000 genomes]
rs12483622	1.00[EUR][1000 genomes]
rs2040142	1.00[EUR][1000 genomes]
rs2212562	1.00[EUR][1000 genomes]
rs2226435	1.00[EUR][1000 genomes]
rs2823821	1.00[EUR][1000 genomes]
rs2823822	1.00[EUR][1000 genomes]
rs2823825	1.00[EUR][1000 genomes]
rs2823826	1.00[EUR][1000 genomes]
rs2823827	1.00[EUR][1000 genomes]
rs2823828	1.00[EUR][1000 genomes]
rs2823830	1.00[EUR][1000 genomes]
rs2823831	1.00[EUR][1000 genomes]
rs2823834	1.00[EUR][1000 genomes]
rs2823835	1.00[EUR][1000 genomes]
rs2823853	1.00[EUR][1000 genomes]
rs2823854	1.00[EUR][1000 genomes]
rs2823855	1.00[EUR][1000 genomes]
rs2823860	1.00[EUR][1000 genomes]
rs2823866	1.00[EUR][1000 genomes]
rs28840743	1.00[AMR][1000 genomes]
rs28875621	1.00[EUR][1000 genomes]
rs2896759	1.00[EUR][1000 genomes]
rs2896760	1.00[EUR][1000 genomes]
rs57055406	1.00[AMR][1000 genomes]
rs57523013	1.00[EUR][1000 genomes]
rs57659737	1.00[AMR][1000 genomes]
rs58072187	1.00[EUR][1000 genomes]
rs58175294	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58304651	1.00[EUR][1000 genomes]
rs58640456	1.00[EUR][1000 genomes]
rs59959567	0.83[AMR][1000 genomes]
rs60754236	1.00[EUR][1000 genomes]
rs60925168	1.00[AMR][1000 genomes]
rs7277815	1.00[EUR][1000 genomes]
rs7278273	1.00[EUR][1000 genomes]
rs7280438	1.00[EUR][1000 genomes]
rs7283241	1.00[EUR][1000 genomes]
rs7283307	1.00[EUR][1000 genomes]
rs7283311	1.00[EUR][1000 genomes]
rs73363406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363411	1.00[EUR][1000 genomes]
rs73363422	1.00[AMR][1000 genomes]
rs73363426	1.00[AMR][1000 genomes]
rs73366681	1.00[EUR][1000 genomes]
rs73366695	1.00[EUR][1000 genomes]
rs73368504	1.00[EUR][1000 genomes]
rs73368506	1.00[EUR][1000 genomes]
rs73368523	1.00[EUR][1000 genomes]
rs73380344	1.00[EUR][1000 genomes]
rs8128684	1.00[EUR][1000 genomes]
rs8132608	1.00[EUR][1000 genomes]
rs8132951	1.00[EUR][1000 genomes]
rs8133408	1.00[EUR][1000 genomes]
rs8134501	1.00[EUR][1000 genomes]
rs9305773	1.00[EUR][1000 genomes]
rs9976320	1.00[EUR][1000 genomes]
rs9976683	1.00[EUR][1000 genomes]
rs9977372	0.83[AMR][1000 genomes]
rs9977870	1.00[EUR][1000 genomes]
rs9981475	1.00[EUR][1000 genomes]
rs9984639	1.00[AMR][1000 genomes]
rs9984970	0.83[AMR][1000 genomes]
rs9985151	1.00[AMR][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	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17836800-17848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr21:17837400-17848800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:17838000-17850200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr21:17840400-17860800	Weak transcription	HUVEC	blood vessel
5	chr21:17841000-17881800	Weak transcription	Hela-S3	cervix
6	chr21:17846000-17849400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:17846600-17848600	Weak transcription	Colon Smooth Muscle	Colon
8	chr21:17846600-17848800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr21:17846600-17848800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr21:17846600-17859400	Weak transcription	Ovary	ovary
11	chr21:17846800-17848600	Weak transcription	Fetal Heart	heart
12	chr21:17846800-17848600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr21:17846800-17848800	Weak transcription	Fetal Lung	lung
14	chr21:17846800-17849600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:17846800-17864000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr21:17847000-17848800	Weak transcription	Osteobl	bone
17	chr21:17847600-17848600	Weak transcription	Adipose Nuclei	Adipose
18	chr21:17847600-17848800	Weak transcription	Brain Angular Gyrus	brain
19	chr21:17847600-17848800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr21:17848200-17848800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr21:17848200-17849000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr21:17848200-17849000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr21:17848400-17849000	Enhancers	Brain Anterior Caudate	brain
24	chr21:17848400-17849000	Enhancers	Brain Hippocampus Middle	brain
25	chr21:17848400-17849400	Enhancers	Brain Substantia Nigra	brain

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