Variant report

Variant	rs2823650
Chromosome Location	chr21:17584300-17584301
allele	G/T
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:25)

rs_ID	r²[population]
rs11088577	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492953	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619989	0.83[AMR][1000 genomes]
rs190229	0.84[AMR][1000 genomes]
rs2156360	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs239003	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239006	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2639700	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823638	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823646	0.81[AMR][1000 genomes]
rs2823651	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823659	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823660	1.00[ASN][1000 genomes]
rs2823661	0.95[ASN][1000 genomes]
rs35934547	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6650848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276974	0.83[AMR][1000 genomes]
rs7277187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283145	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs983530	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974416	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983241	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17576000-17596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:17581200-17584400	Enhancers	Ovary	ovary
3	chr21:17582200-17585400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr21:17583000-17585000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:17583600-17584400	Flanking Active TSS	Liver	Liver
6	chr21:17583600-17584400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr21:17583600-17584400	Enhancers	Colon Smooth Muscle	Colon
8	chr21:17583600-17584600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr21:17583600-17584600	Enhancers	Fetal Kidney	kidney
10	chr21:17583600-17584600	Enhancers	Right Atrium	heart
11	chr21:17583600-17584800	Enhancers	Brain Angular Gyrus	brain
12	chr21:17583600-17585400	Enhancers	Brain Cingulate Gyrus	brain
13	chr21:17583600-17586200	Enhancers	Brain Hippocampus Middle	brain
14	chr21:17583800-17584400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:17583800-17584400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:17583800-17584400	Enhancers	A549	lung
17	chr21:17583800-17584400	Enhancers	Hela-S3	cervix
18	chr21:17583800-17584400	Enhancers	NH-A	brain
19	chr21:17583800-17584600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:17583800-17584600	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr21:17583800-17584600	Enhancers	HUVEC	blood vessel
22	chr21:17583800-17585200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr21:17583800-17585400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr21:17584000-17584400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr21:17584000-17584400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr21:17584000-17584400	Active TSS	Left Ventricle	heart
27	chr21:17584000-17584600	Enhancers	Primary hematopoietic stem cells	blood
28	chr21:17584000-17584600	Enhancers	Aorta	Aorta
29	chr21:17584000-17584600	Enhancers	Fetal Lung	lung
30	chr21:17584000-17584800	Flanking Active TSS	Osteobl	bone
31	chr21:17584000-17585000	Flanking Active TSS	Fetal Heart	heart
32	chr21:17584000-17585000	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr21:17584000-17585400	Active TSS	Psoas Muscle	Psoas
34	chr21:17584000-17587600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr21:17584000-17598800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr21:17584200-17584400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr21:17584200-17584400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr21:17584200-17584400	Active TSS	HSMMtube	muscle
39	chr21:17584200-17584600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:17584200-17584600	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr21:17584200-17584600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr21:17584200-17584800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr21:17584200-17585000	Active TSS	NHDF-Ad	bronchial
44	chr21:17584200-17585200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:17584200-17585600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr21:17584200-17586200	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr21:17584200-17587800	Weak transcription	Brain Substantia Nigra	brain
48	chr21:17584200-17592200	Weak transcription	Fetal Muscle Leg	muscle
49	chr21:17584200-17592200	Weak transcription	Fetal Stomach	stomach

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