Variant report

Variant	rs2823818
Chromosome Location	chr21:17827923-17827924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1156252	0.81[CEU][hapmap]
rs2823789	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2823794	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs2823806	1.00[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73357775	0.85[EUR][1000 genomes]
rs73357787	0.86[EUR][1000 genomes]
rs8129788	0.87[ASW][hapmap];1.00[CEU][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap]
rs9637006	0.81[CEU][hapmap]
rs996177	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9974511	1.00[CEU][hapmap]

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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17809600-17828200	Weak transcription	Left Ventricle	heart
2	chr21:17814600-17828400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:17826400-17828000	Enhancers	Fetal Brain Male	brain
4	chr21:17826600-17828200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:17826600-17829600	Enhancers	Fetal Heart	heart
6	chr21:17826800-17828000	Enhancers	Brain Angular Gyrus	brain
7	chr21:17827000-17828000	Enhancers	Brain Hippocampus Middle	brain
8	chr21:17827000-17828000	Enhancers	Brain Substantia Nigra	brain
9	chr21:17827000-17828000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr21:17827000-17828200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:17827200-17828000	Enhancers	Brain Anterior Caudate	brain
12	chr21:17827200-17828200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr21:17827200-17828200	Weak transcription	Adipose Nuclei	Adipose
14	chr21:17827200-17828400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr21:17827200-17830600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr21:17827600-17828200	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr21:17827600-17829200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:17827600-17829400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr21:17827800-17828000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:17827800-17828000	Enhancers	Brain Cingulate Gyrus	brain
21	chr21:17827800-17828000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr21:17827800-17828200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:17827800-17828200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr21:17827800-17828200	Flanking Active TSS	Fetal Brain Female	brain
25	chr21:17827800-17828200	Enhancers	Osteobl	bone
26	chr21:17827800-17828400	Active TSS	HSMMtube	muscle
27	chr21:17827800-17828800	Enhancers	Fetal Muscle Leg	muscle

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