Variant report

Variant	rs59430518
Chromosome Location	chr21:17796608-17796609
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	chr21:17795082..17798298-chr21:17801061..17804757,3	MCF-7	breast:
2	chr21:17793428..17795619-chr21:17796309..17799030,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11909839	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12482089	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627253	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1449517	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992970	0.96[ASN][1000 genomes]
rs1992971	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv913419	chr21:17775056-17826260	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv470880	chr21:17777827-17820111	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv459100	chr21:17777966-17826260	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv587077	chr21:17777966-17826260	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv913420	chr21:17777966-17826260	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv913421	chr21:17786219-17826260	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv913422	chr21:17791751-17826260	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv459101	chr21:17794432-17819036	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv587078	chr21:17794432-17819036	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17790400-17797000	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr21:17791200-17797000	Active TSS	Fetal Brain Female	brain
3	chr21:17791400-17796800	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr21:17791400-17797000	Active TSS	Stomach Smooth Muscle	stomach
5	chr21:17791400-17797200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:17791400-17797200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr21:17791600-17796800	Active TSS	Fetal Stomach	stomach
8	chr21:17791600-17797200	Active TSS	HSMMtube	muscle
9	chr21:17791800-17797400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:17794400-17796800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:17794400-17797200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr21:17794400-17797800	Active TSS	Right Atrium	heart
13	chr21:17795000-17798200	Flanking Active TSS	HUVEC	blood vessel
14	chr21:17795200-17796800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr21:17795400-17797200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr21:17795400-17803200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr21:17795800-17797000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:17796000-17796800	Active TSS	Psoas Muscle	Psoas
19	chr21:17796000-17800800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr21:17796200-17796800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:17796200-17796800	Active TSS	A549	lung
22	chr21:17796200-17797000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr21:17796200-17797000	Active TSS	Brain Anterior Caudate	brain
24	chr21:17796200-17797400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr21:17796200-17797600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr21:17796200-17797600	Flanking Active TSS	Liver	Liver
27	chr21:17796400-17797000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr21:17796400-17797000	Active TSS	Aorta	Aorta
29	chr21:17796400-17797000	Active TSS	Brain Angular Gyrus	brain
30	chr21:17796400-17797000	Active TSS	Brain Hippocampus Middle	brain
31	chr21:17796400-17797000	Active TSS	NHDF-Ad	bronchial
32	chr21:17796400-17797000	Active TSS	NHLF	lung
33	chr21:17796400-17797200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr21:17796400-17797200	Active TSS	Brain Cingulate Gyrus	brain
35	chr21:17796400-17797200	Active TSS	Brain Substantia Nigra	brain
36	chr21:17796400-17797200	Active TSS	Colon Smooth Muscle	Colon
37	chr21:17796400-17797200	Active TSS	Fetal Kidney	kidney
38	chr21:17796400-17797200	Flanking Active TSS	Fetal Lung	lung
39	chr21:17796400-17797200	Active TSS	Fetal Muscle Leg	muscle
40	chr21:17796400-17797200	Active TSS	Right Ventricle	heart
41	chr21:17796400-17797600	Active TSS	Ovary	ovary
42	chr21:17796400-17797800	Enhancers	Rectal Smooth Muscle	rectum
43	chr21:17796600-17796800	Active TSS	Adipose Nuclei	Adipose
44	chr21:17796600-17796800	Flanking Active TSS	Fetal Brain Male	brain
45	chr21:17796600-17797000	Active TSS	Fetal Muscle Trunk	muscle
46	chr21:17796600-17797000	Flanking Active TSS	HMEC	breast
47	chr21:17796600-17797000	Flanking Active TSS	HSMM	muscle
48	chr21:17796600-17797000	Flanking Active TSS	NHEK	skin
49	chr21:17796600-17797000	Flanking Active TSS	Osteobl	bone
50	chr21:17796600-17797200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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