Variant report

Variant	rs2823863
Chromosome Location	chr21:17915214-17915215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12483106	0.97[ASN][1000 genomes]
rs2404135	0.97[ASN][1000 genomes]
rs2823824	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2823848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2823850	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2823851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2823859	0.83[AMR][1000 genomes]
rs2823867	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs2823871	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs2823876	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs2823877	0.85[CHB][hapmap]
rs2823880	0.86[CHB][hapmap]
rs2823894	1.00[EUR][1000 genomes]
rs28647658	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59527462	0.97[ASN][1000 genomes]
rs7282899	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs728399	1.00[EUR][1000 genomes]
rs8126961	1.00[JPT][hapmap]
rs8128087	0.81[ASN][1000 genomes]
rs8131578	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs8134246	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs8134648	0.83[AMR][1000 genomes]
rs9305769	1.00[JPT][hapmap]
rs9975284	1.00[JPT][hapmap]
rs9975878	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9976995	0.97[ASN][1000 genomes]
rs9977113	1.00[EUR][1000 genomes]
rs9977870	0.97[ASN][1000 genomes]
rs9979076	0.97[ASN][1000 genomes]
rs9979111	0.97[ASN][1000 genomes]
rs9980715	0.81[ASN][1000 genomes]
rs9982229	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9984951	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9984970	0.83[ASN][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17908800-17918400	Weak transcription	Fetal Stomach	stomach
2	chr21:17909600-17926800	Weak transcription	Fetal Kidney	kidney
3	chr21:17909800-17926600	Weak transcription	Fetal Heart	heart
4	chr21:17909800-17927000	Weak transcription	Left Ventricle	heart
5	chr21:17910200-17942000	Weak transcription	Brain Anterior Caudate	brain
6	chr21:17910200-17943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr21:17910600-17923600	Weak transcription	HSMM	muscle
8	chr21:17910600-17928600	Weak transcription	Liver	Liver
9	chr21:17910600-17934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr21:17911000-17920000	Weak transcription	NH-A	brain
11	chr21:17911000-17923600	Weak transcription	Osteobl	bone
12	chr21:17911200-17916600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr21:17911800-17915600	Weak transcription	Ovary	ovary
14	chr21:17912200-17936000	Weak transcription	Adipose Nuclei	Adipose
15	chr21:17912200-17942000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:17912400-17915600	Weak transcription	Fetal Brain Female	brain
17	chr21:17912400-17926400	Weak transcription	Brain Germinal Matrix	brain
18	chr21:17912400-17934400	Weak transcription	Fetal Brain Male	brain
19	chr21:17912800-17915800	Weak transcription	Fetal Muscle Leg	muscle
20	chr21:17912800-17923600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr21:17912800-17928400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr21:17913000-17916000	Weak transcription	Fetal Lung	lung
23	chr21:17913000-17923400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr21:17913800-17915800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr21:17914000-17916000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:17914000-17922000	Weak transcription	Hela-S3	cervix
27	chr21:17914200-17922800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:17914400-17922800	Weak transcription	A549	lung
29	chr21:17915200-17916400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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