Variant report

Variant	rs2823894
Chromosome Location	chr21:17950979-17950980
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2823863	1.00[EUR][1000 genomes]
rs28647658	1.00[EUR][1000 genomes]
rs728399	1.00[EUR][1000 genomes]
rs9975878	1.00[EUR][1000 genomes]
rs9977113	1.00[EUR][1000 genomes]
rs9982229	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	esv3324429	chr21:17948931-17950979	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
2	chr21:17934600-17958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr21:17936400-17951600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:17936600-17951400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:17936600-17951400	Weak transcription	Left Ventricle	heart
6	chr21:17936800-17959400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:17941200-17951800	Weak transcription	Fetal Kidney	kidney
8	chr21:17943000-17951400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr21:17943200-17956000	Weak transcription	Hela-S3	cervix
10	chr21:17945800-17951200	Weak transcription	HSMMtube	muscle
11	chr21:17946000-17951400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr21:17946000-17951800	Weak transcription	NHDF-Ad	bronchial
13	chr21:17946200-17951400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:17946200-17955800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr21:17946400-17956000	Weak transcription	A549	lung
16	chr21:17946600-17951000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr21:17946600-17951600	Weak transcription	NH-A	brain
18	chr21:17946600-17956000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr21:17946800-17951200	Weak transcription	Osteobl	bone
20	chr21:17947000-17951200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:17947000-17951600	Weak transcription	HSMM	muscle
22	chr21:17950200-17951600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:17950200-17954200	Enhancers	Fetal Lung	lung
24	chr21:17950400-17953600	Enhancers	Adipose Nuclei	Adipose
25	chr21:17950400-17953800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr21:17950400-17959000	Weak transcription	Fetal Brain Male	brain
27	chr21:17950600-17951000	Weak transcription	Brain Germinal Matrix	brain
28	chr21:17950600-17951400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:17950600-17952000	Enhancers	Brain Hippocampus Middle	brain
30	chr21:17950600-17952200	Enhancers	Fetal Muscle Leg	muscle
31	chr21:17950600-17952400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr21:17950800-17951400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr21:17950800-17951400	Enhancers	Brain Cingulate Gyrus	brain

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