Variant report

Variant	rs2823897
Chromosome Location	chr21:17962382-17962383
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2018708	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2823898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823899	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs2823900	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823903	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2823904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823905	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2823906	1.00[CEU][hapmap]
rs2823907	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2823908	0.90[ASN][1000 genomes]
rs915763	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs915764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9284478	0.90[ASN][1000 genomes]
rs9305772	0.90[ASN][1000 genomes]
rs9976775	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17959200-17962400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr21:17959200-17962600	Active TSS	Brain Cingulate Gyrus	brain
3	chr21:17959400-17963200	Active TSS	Brain Angular Gyrus	brain
4	chr21:17959800-17962800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr21:17960000-17962600	Active TSS	Brain Substantia Nigra	brain
6	chr21:17960000-17963200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr21:17960000-17963400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:17960000-17963600	Active TSS	Brain Anterior Caudate	brain
9	chr21:17960000-17970600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:17960600-17962400	Active TSS	Brain Germinal Matrix	brain
11	chr21:17960600-17963600	Active TSS	Fetal Brain Female	brain
12	chr21:17961000-17964800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr21:17961200-17964200	Weak transcription	Fetal Lung	lung
14	chr21:17961200-17968400	Weak transcription	Liver	Liver
15	chr21:17961200-17970200	Weak transcription	Psoas Muscle	Psoas
16	chr21:17961200-17971200	Weak transcription	Esophagus	oesophagus
17	chr21:17961200-17978000	Weak transcription	Fetal Muscle Leg	muscle
18	chr21:17961200-17978000	Weak transcription	Left Ventricle	heart
19	chr21:17961200-17978000	Weak transcription	Ovary	ovary
20	chr21:17961200-17979200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr21:17961200-17985200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr21:17961200-18003800	Weak transcription	Aorta	Aorta
23	chr21:17961400-17962800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:17961400-17964600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:17961400-17964800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:17961400-17968600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr21:17961400-17968800	Weak transcription	Fetal Kidney	kidney
28	chr21:17961400-17977600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr21:17961400-17983200	Weak transcription	HSMMtube	muscle
30	chr21:17961400-17984000	Weak transcription	Osteobl	bone
31	chr21:17961600-17962800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:17961800-17963200	Active TSS	Fetal Brain Male	brain
33	chr21:17961800-17973400	Weak transcription	HUVEC	blood vessel
34	chr21:17962000-17963000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr21:17962200-17962400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr21:17962200-17962600	Active TSS	Brain Hippocampus Middle	brain
37	chr21:17962200-17962800	Active TSS	Adipose Nuclei	Adipose
38	chr21:17962200-17987800	Weak transcription	Hela-S3	cervix

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