Variant report

Variant	rs8128684
Chromosome Location	chr21:17829961-17829962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

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]
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]
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[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]
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	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	chr21:17827200-17830600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:17828600-17833400	Weak transcription	Esophagus	oesophagus
3	chr21:17828800-17831200	Weak transcription	Brain Angular Gyrus	brain
4	chr21:17828800-17833600	Weak transcription	Fetal Muscle Leg	muscle
5	chr21:17828800-17834600	Weak transcription	Left Ventricle	heart
6	chr21:17828800-17835000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr21:17829000-17830200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr21:17829000-17830200	Enhancers	Brain Anterior Caudate	brain
9	chr21:17829000-17831000	Weak transcription	Brain Substantia Nigra	brain
10	chr21:17829000-17843600	Weak transcription	Brain Hippocampus Middle	brain
11	chr21:17829200-17830000	Enhancers	Brain Cingulate Gyrus	brain
12	chr21:17829200-17830200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:17829400-17830400	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr21:17829600-17830000	Flanking Active TSS	Fetal Heart	heart
15	chr21:17829600-17830800	Enhancers	Brain Germinal Matrix	brain
16	chr21:17829600-17831800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:17829600-17835000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:17829600-17835600	Weak transcription	Fetal Brain Female	brain
19	chr21:17829800-17830000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr21:17829800-17830000	Flanking Active TSS	Psoas Muscle	Psoas
21	chr21:17829800-17830000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr21:17829800-17830000	Enhancers	HSMMtube	muscle
23	chr21:17829800-17830200	Enhancers	Ovary	ovary
24	chr21:17829800-17830200	Active TSS	Right Ventricle	heart
25	chr21:17829800-17830400	Active TSS	Right Atrium	heart

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