Variant report

Variant	rs17000077
Chromosome Location	chr21:17947510-17947511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTG3-11	chr21:17947038-17947592	ENSG00000269950.1

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11910443	1.00[EUR][1000 genomes]
rs11910489	1.00[EUR][1000 genomes]
rs11911281	1.00[EUR][1000 genomes]
rs16998528	1.00[EUR][1000 genomes]
rs16998825	1.00[EUR][1000 genomes]
rs16999201	1.00[EUR][1000 genomes]
rs16999221	1.00[EUR][1000 genomes]
rs16999403	1.00[EUR][1000 genomes]
rs16999411	1.00[EUR][1000 genomes]
rs16999453	1.00[EUR][1000 genomes]
rs16999968	1.00[AMR][1000 genomes]
rs17000181	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17000784	1.00[EUR][1000 genomes]
rs2000628	1.00[AMR][1000 genomes]
rs2243706	1.00[EUR][1000 genomes]
rs2823935	1.00[EUR][1000 genomes]
rs4380331	1.00[EUR][1000 genomes]
rs57784792	1.00[EUR][1000 genomes]
rs58347042	1.00[EUR][1000 genomes]
rs59937974	1.00[EUR][1000 genomes]
rs6517701	1.00[EUR][1000 genomes]
rs6517702	1.00[EUR][1000 genomes]
rs7275723	1.00[EUR][1000 genomes]
rs7277099	1.00[EUR][1000 genomes]
rs7277211	1.00[EUR][1000 genomes]
rs73367454	1.00[EUR][1000 genomes]
rs73367494	1.00[EUR][1000 genomes]
rs73369729	1.00[EUR][1000 genomes]
rs73893739	1.00[EUR][1000 genomes]
rs8127203	1.00[AMR][1000 genomes]
rs8127360	1.00[EUR][1000 genomes]
rs8128705	1.00[EUR][1000 genomes]
rs8128729	1.00[EUR][1000 genomes]
rs8129493	1.00[EUR][1000 genomes]
rs8129644	1.00[EUR][1000 genomes]
rs8130130	1.00[EUR][1000 genomes]
rs8131413	1.00[EUR][1000 genomes]
rs8131420	1.00[EUR][1000 genomes]
rs8132247	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
2	chr21:17927200-17950200	Weak transcription	Fetal Lung	lung
3	chr21:17927200-17950800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr21:17934600-17958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr21:17936400-17950400	Weak transcription	Adipose Nuclei	Adipose
6	chr21:17936400-17951600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:17936600-17951400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:17936600-17951400	Weak transcription	Left Ventricle	heart
9	chr21:17936800-17959400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:17941200-17951800	Weak transcription	Fetal Kidney	kidney
11	chr21:17942200-17950600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr21:17943000-17950400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr21:17943000-17951400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr21:17943200-17956000	Weak transcription	Hela-S3	cervix
15	chr21:17945800-17951200	Weak transcription	HSMMtube	muscle
16	chr21:17946000-17951400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:17946000-17951800	Weak transcription	NHDF-Ad	bronchial
18	chr21:17946200-17951400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:17946200-17955800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr21:17946400-17956000	Weak transcription	A549	lung
21	chr21:17946600-17951000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:17946600-17951600	Weak transcription	NH-A	brain
23	chr21:17946600-17956000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr21:17946800-17950200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:17946800-17950600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:17946800-17951200	Weak transcription	Osteobl	bone
27	chr21:17947000-17951200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:17947000-17951600	Weak transcription	HSMM	muscle

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