Variant report

Variant	rs7280438
Chromosome Location	chr21:17970486-17970487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10084567	1.00[EUR][1000 genomes]
rs10084608	1.00[EUR][1000 genomes]
rs10084612	1.00[CHB][hapmap];0.80[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481827	1.00[CHB][hapmap]
rs12482037	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12482215	1.00[EUR][1000 genomes]
rs12482914	1.00[EUR][1000 genomes]
rs12482937	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs12483223	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs12483358	1.00[EUR][1000 genomes]
rs12483622	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040142	1.00[EUR][1000 genomes]
rs2212562	1.00[EUR][1000 genomes]
rs2226435	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];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]
rs2823864	1.00[CHB][hapmap]
rs2823866	1.00[EUR][1000 genomes]
rs2823891	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs2823907	0.81[AMR][1000 genomes]
rs28496427	1.00[EUR][1000 genomes]
rs28875621	1.00[EUR][1000 genomes]
rs2896759	1.00[EUR][1000 genomes]
rs2896760	1.00[EUR][1000 genomes]
rs57523013	1.00[EUR][1000 genomes]
rs58072187	1.00[EUR][1000 genomes]
rs58175294	1.00[EUR][1000 genomes]
rs58304651	1.00[EUR][1000 genomes]
rs58640456	1.00[EUR][1000 genomes]
rs60754236	1.00[EUR][1000 genomes]
rs7277815	1.00[EUR][1000 genomes]
rs7278273	1.00[EUR][1000 genomes]
rs7283241	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs7283307	1.00[EUR][1000 genomes]
rs7283311	1.00[EUR][1000 genomes]
rs73363406	1.00[EUR][1000 genomes]
rs73363409	1.00[EUR][1000 genomes]
rs73363411	1.00[EUR][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]
rs9977870	1.00[EUR][1000 genomes]
rs9981475	1.00[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	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	nsv834052	chr21:17967385-18142224	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17960000-17970600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:17961200-17971200	Weak transcription	Esophagus	oesophagus
3	chr21:17961200-17978000	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:17961200-17978000	Weak transcription	Left Ventricle	heart
5	chr21:17961200-17978000	Weak transcription	Ovary	ovary
6	chr21:17961200-17979200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr21:17961200-17985200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr21:17961200-18003800	Weak transcription	Aorta	Aorta
9	chr21:17961400-17977600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr21:17961400-17983200	Weak transcription	HSMMtube	muscle
11	chr21:17961400-17984000	Weak transcription	Osteobl	bone
12	chr21:17961800-17973400	Weak transcription	HUVEC	blood vessel
13	chr21:17962200-17987800	Weak transcription	Hela-S3	cervix
14	chr21:17963200-17977800	Weak transcription	Adipose Nuclei	Adipose
15	chr21:17963400-17977200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr21:17963600-17981400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:17965000-17977600	Weak transcription	Brain Anterior Caudate	brain
18	chr21:17965200-17977200	Weak transcription	Brain Angular Gyrus	brain
19	chr21:17967600-17976200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr21:17967800-17976000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr21:17969000-17975800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr21:17969000-17977800	Weak transcription	Fetal Kidney	kidney
23	chr21:17969000-18005200	Weak transcription	Liver	Liver
24	chr21:17969200-17977200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:17969200-17980200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:17969400-17979800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr21:17969800-17975800	Weak transcription	Fetal Brain Male	brain

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