Variant report

Variant	rs28566095
Chromosome Location	chr21:17904714-17904715
allele	C/T
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: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10084583	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10470097	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59613864	1.00[AMR][1000 genomes]
rs9974670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9982363	1.00[AMR][1000 genomes]
rs9983563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9983598	1.00[AFR][1000 genomes];1.00[AMR][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:33 , 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	chr21:17904000-17905600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr21:17904000-17906600	Weak transcription	Fetal Kidney	kidney
8	chr21:17904200-17904800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr21:17904200-17905200	Weak transcription	Brain Substantia Nigra	brain
10	chr21:17904200-17905400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr21:17904200-17906000	Enhancers	Brain Anterior Caudate	brain
12	chr21:17904400-17904800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:17904400-17904800	Enhancers	Brain Angular Gyrus	brain
14	chr21:17904400-17904800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr21:17904400-17905000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:17904400-17905400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr21:17904400-17905400	Enhancers	Liver	Liver
18	chr21:17904400-17905400	Weak transcription	NHDF-Ad	bronchial
19	chr21:17904400-17905600	Enhancers	Adipose Nuclei	Adipose
20	chr21:17904400-17906000	Enhancers	Brain Cingulate Gyrus	brain
21	chr21:17904400-17907400	Enhancers	Hela-S3	cervix
22	chr21:17904600-17905400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:17904600-17905400	Weak transcription	Ovary	ovary
24	chr21:17904600-17905600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:17904600-17905600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:17904600-17905800	Weak transcription	Right Atrium	heart
27	chr21:17904600-17906000	Enhancers	Brain Germinal Matrix	brain
28	chr21:17904600-17906000	Weak transcription	Fetal Muscle Leg	muscle
29	chr21:17904600-17906000	Enhancers	Rectal Smooth Muscle	rectum
30	chr21:17904600-17906200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr21:17904600-17906200	Weak transcription	Esophagus	oesophagus
32	chr21:17904600-17906200	Enhancers	Fetal Lung	lung
33	chr21:17904600-17914200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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