Variant report

Variant	rs16999411
Chromosome Location	chr21:17904456-17904457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17903700..17906085-chr21:17908034..17909928,2	K562	blood:

Variant related genes	Relation type
ENSG00000215386	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16998890	0.83[AMR][1000 genomes]
rs16999201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999403	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999453	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17000077	1.00[EUR][1000 genomes]
rs17000181	1.00[EUR][1000 genomes]
rs17000784	1.00[EUR][1000 genomes]
rs2032286	0.83[AMR][1000 genomes]
rs2243706	1.00[EUR][1000 genomes]
rs2823935	1.00[EUR][1000 genomes]
rs4380331	1.00[EUR][1000 genomes]
rs57784792	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58347042	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6517701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6517702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7275723	1.00[EUR][1000 genomes]
rs7277099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7277211	1.00[EUR][1000 genomes]
rs73367454	1.00[EUR][1000 genomes]
rs73367494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73369729	1.00[EUR][1000 genomes]
rs73893739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8127360	1.00[EUR][1000 genomes]
rs8128705	1.00[EUR][1000 genomes]
rs8128729	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8129493	1.00[EUR][1000 genomes]
rs8129644	1.00[EUR][1000 genomes]
rs8130130	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8131413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8131420	1.00[EUR][1000 genomes]
rs8132247	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	esv3405994	chr21:17895130-17912420	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	292 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	chr21:17887000-17906000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:17894200-17906200	Weak transcription	Left Ventricle	heart
3	chr21:17894200-17906800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:17898800-17906000	Weak transcription	Psoas Muscle	Psoas
5	chr21:17903600-17906800	Enhancers	HUVEC	blood vessel
6	chr21:17903800-17904600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:17904000-17904600	ZNF genes & repeats	Fetal Muscle Leg	muscle
8	chr21:17904000-17904600	Enhancers	Ovary	ovary
9	chr21:17904000-17904600	Enhancers	Right Atrium	heart
10	chr21:17904000-17905600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr21:17904000-17906600	Weak transcription	Fetal Kidney	kidney
12	chr21:17904200-17904600	Enhancers	Esophagus	oesophagus
13	chr21:17904200-17904800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr21:17904200-17905200	Weak transcription	Brain Substantia Nigra	brain
15	chr21:17904200-17905400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr21:17904200-17906000	Enhancers	Brain Anterior Caudate	brain
17	chr21:17904400-17904600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:17904400-17904800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:17904400-17904800	Enhancers	Brain Angular Gyrus	brain
20	chr21:17904400-17904800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr21:17904400-17905000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr21:17904400-17905400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr21:17904400-17905400	Enhancers	Liver	Liver
24	chr21:17904400-17905400	Weak transcription	NHDF-Ad	bronchial
25	chr21:17904400-17905600	Enhancers	Adipose Nuclei	Adipose
26	chr21:17904400-17906000	Enhancers	Brain Cingulate Gyrus	brain
27	chr21:17904400-17907400	Enhancers	Hela-S3	cervix

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