Variant report

Variant	rs10470097
Chromosome Location	chr21:17911192-17911193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10084583	0.84[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910639	1.00[EUR][1000 genomes]
rs28566095	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28750139	1.00[EUR][1000 genomes]
rs55725525	1.00[EUR][1000 genomes]
rs59398000	1.00[EUR][1000 genomes]
rs59613864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73369752	1.00[EUR][1000 genomes]
rs73891587	1.00[EUR][1000 genomes]
rs73891590	1.00[EUR][1000 genomes]
rs73891608	1.00[EUR][1000 genomes]
rs73891609	1.00[EUR][1000 genomes]
rs73891610	1.00[EUR][1000 genomes]
rs73891615	1.00[EUR][1000 genomes]
rs73891620	1.00[EUR][1000 genomes]
rs73891621	1.00[EUR][1000 genomes]
rs73891622	1.00[EUR][1000 genomes]
rs73891630	1.00[EUR][1000 genomes]
rs73891632	1.00[EUR][1000 genomes]
rs73893766	1.00[EUR][1000 genomes]
rs9974670	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9980238	1.00[EUR][1000 genomes]
rs9982363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9983563	0.84[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9983598	0.84[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9983994	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17904600-17914200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:17906200-17912000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr21:17906400-17912200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:17906400-17912400	Active TSS	Right Atrium	heart
5	chr21:17906600-17911400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:17906800-17912400	Active TSS	Fetal Brain Female	brain
7	chr21:17907200-17912200	Active TSS	Adipose Nuclei	Adipose
8	chr21:17907600-17912000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:17907800-17911800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:17908200-17912400	Active TSS	Fetal Brain Male	brain
11	chr21:17908800-17918400	Weak transcription	Fetal Stomach	stomach
12	chr21:17909600-17926800	Weak transcription	Fetal Kidney	kidney
13	chr21:17909800-17912000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr21:17909800-17926600	Weak transcription	Fetal Heart	heart
15	chr21:17909800-17927000	Weak transcription	Left Ventricle	heart
16	chr21:17910000-17912000	Weak transcription	HUVEC	blood vessel
17	chr21:17910000-17913400	Weak transcription	A549	lung
18	chr21:17910200-17911400	Weak transcription	Psoas Muscle	Psoas
19	chr21:17910200-17913400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr21:17910200-17942000	Weak transcription	Brain Anterior Caudate	brain
21	chr21:17910200-17943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr21:17910400-17911200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:17910600-17911400	Weak transcription	Brain Hippocampus Middle	brain
24	chr21:17910600-17911400	Weak transcription	Ovary	ovary
25	chr21:17910600-17911800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr21:17910600-17913600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr21:17910600-17923600	Weak transcription	HSMM	muscle
28	chr21:17910600-17928600	Weak transcription	Liver	Liver
29	chr21:17910600-17934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr21:17910800-17911600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr21:17910800-17912000	Weak transcription	Fetal Muscle Leg	muscle
32	chr21:17911000-17911200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr21:17911000-17911400	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr21:17911000-17911800	Weak transcription	Fetal Lung	lung
35	chr21:17911000-17912000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr21:17911000-17913400	Weak transcription	Hela-S3	cervix
37	chr21:17911000-17920000	Weak transcription	NH-A	brain
38	chr21:17911000-17923600	Weak transcription	Osteobl	bone

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