Variant report

Variant	rs57784792
Chromosome Location	chr21:17908061-17908062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr21:17907407-17909899	Hela-S3	cervix:	n/a	chr21:17908534-17908548 chr21:17908537-17908546
2	MXI1	chr21:17905834-17908101	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
MIR99A	TF binding region
MIRLET7C	TF binding region
LINC00478	TF binding region

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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999411	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999453	0.98[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]
rs58347042	0.97[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73369729	1.00[EUR][1000 genomes]
rs73893739	0.98[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	0.98[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	0.98[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17904600-17914200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:17905600-17909200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr21:17905800-17910200	Active TSS	Brain Substantia Nigra	brain
4	chr21:17905800-17910600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr21:17905800-17910800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr21:17906000-17910000	Active TSS	Brain Cingulate Gyrus	brain
7	chr21:17906000-17910200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr21:17906000-17910200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr21:17906000-17910600	Active TSS	Ovary	ovary
10	chr21:17906000-17911000	Active TSS	Brain Angular Gyrus	brain
11	chr21:17906200-17908200	Active TSS	Aorta	Aorta
12	chr21:17906200-17908200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr21:17906200-17910200	Active TSS	Brain Anterior Caudate	brain
14	chr21:17906200-17910200	Active TSS	Right Ventricle	heart
15	chr21:17906200-17910800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:17906200-17911000	Active TSS	NHLF	lung
17	chr21:17906200-17912000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr21:17906400-17908400	Active TSS	Brain Hippocampus Middle	brain
19	chr21:17906400-17908600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr21:17906400-17909600	Active TSS	Colon Smooth Muscle	Colon
21	chr21:17906400-17910000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr21:17906400-17910000	Active TSS	NHDF-Ad	bronchial
23	chr21:17906400-17910200	Active TSS	Psoas Muscle	Psoas
24	chr21:17906400-17912200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:17906400-17912400	Active TSS	Right Atrium	heart
26	chr21:17906600-17908200	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr21:17906600-17910200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:17906600-17910600	Active TSS	Fetal Lung	lung
29	chr21:17906600-17910600	Active TSS	HMEC	breast
30	chr21:17906600-17911400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:17906800-17912400	Active TSS	Fetal Brain Female	brain
32	chr21:17907000-17908400	Active TSS	NHEK	skin
33	chr21:17907000-17909800	Active TSS	Stomach Smooth Muscle	stomach
34	chr21:17907000-17910200	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr21:17907000-17910600	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr21:17907000-17911000	Active TSS	Brain Germinal Matrix	brain
37	chr21:17907000-17911000	Active TSS	HSMMtube	muscle
38	chr21:17907200-17908200	Enhancers	Fetal Heart	heart
39	chr21:17907200-17908400	Active TSS	Osteobl	bone
40	chr21:17907200-17908800	Enhancers	HUVEC	blood vessel
41	chr21:17907200-17910000	Active TSS	Liver	Liver
42	chr21:17907200-17910800	Active TSS	Fetal Muscle Leg	muscle
43	chr21:17907200-17912200	Active TSS	Adipose Nuclei	Adipose
44	chr21:17907600-17908200	Flanking Active TSS	Fetal Brain Male	brain
45	chr21:17907600-17909200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:17907600-17909200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr21:17907600-17909600	Enhancers	Fetal Kidney	kidney
48	chr21:17907600-17912000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:17907800-17908200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr21:17907800-17908400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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