Variant report

Variant	rs73893739
Chromosome Location	chr21:17905649-17905650
allele	G/T
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	POLR2A	chr21:17905617-17905673	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr21:17905220-17906306	K562	blood:	n/a	n/a
3	CEBPB	chr21:17905357-17905924	A549	lung:	n/a	chr21:17905402-17905415 chr21:17905402-17905413 chr21:17905402-17905413 chr21:17905402-17905415 chr21:17905402-17905415

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

Variant related genes	Relation type
LINC00478	TF binding region
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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999453	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]
rs8127360	1.00[EUR][1000 genomes]
rs8128705	1.00[EUR][1000 genomes]
rs8128729	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[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:47 , 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	chr21:17904000-17906600	Weak transcription	Fetal Kidney	kidney
7	chr21:17904200-17906000	Enhancers	Brain Anterior Caudate	brain
8	chr21:17904400-17906000	Enhancers	Brain Cingulate Gyrus	brain
9	chr21:17904400-17907400	Enhancers	Hela-S3	cervix
10	chr21:17904600-17905800	Weak transcription	Right Atrium	heart
11	chr21:17904600-17906000	Enhancers	Brain Germinal Matrix	brain
12	chr21:17904600-17906000	Weak transcription	Fetal Muscle Leg	muscle
13	chr21:17904600-17906000	Enhancers	Rectal Smooth Muscle	rectum
14	chr21:17904600-17906200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:17904600-17906200	Weak transcription	Esophagus	oesophagus
16	chr21:17904600-17906200	Enhancers	Fetal Lung	lung
17	chr21:17904600-17914200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:17905000-17906000	Enhancers	Brain Hippocampus Middle	brain
19	chr21:17905000-17906000	Enhancers	Osteobl	bone
20	chr21:17905000-17906200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr21:17905000-17906200	Enhancers	Fetal Heart	heart
22	chr21:17905200-17905800	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr21:17905200-17906000	Enhancers	Fetal Brain Male	brain
24	chr21:17905200-17906000	Enhancers	HSMMtube	muscle
25	chr21:17905200-17906200	Enhancers	Colon Smooth Muscle	Colon
26	chr21:17905400-17905800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr21:17905400-17906000	Weak transcription	Brain Angular Gyrus	brain
28	chr21:17905400-17906000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr21:17905400-17906000	Enhancers	NH-A	brain
30	chr21:17905400-17906000	Enhancers	NHDF-Ad	bronchial
31	chr21:17905400-17906400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:17905400-17906400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr21:17905400-17906400	Flanking Active TSS	Fetal Brain Female	brain
34	chr21:17905400-17906600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr21:17905400-17906800	Flanking Active TSS	A549	lung
36	chr21:17905400-17907200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr21:17905600-17905800	Enhancers	Liver	Liver
38	chr21:17905600-17906000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr21:17905600-17906000	Weak transcription	Ovary	ovary
40	chr21:17905600-17906000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr21:17905600-17906000	Enhancers	HSMM	muscle
42	chr21:17905600-17906200	Enhancers	NHLF	lung
43	chr21:17905600-17906400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr21:17905600-17906600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr21:17905600-17906600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr21:17905600-17907800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr21:17905600-17909200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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