Variant report

Variant	rs2823824
Chromosome Location	chr21:17838769-17838770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12483106	1.00[EUR][1000 genomes]
rs2000626	0.86[CHB][hapmap]
rs2039242	0.84[GIH][hapmap]
rs2823823	1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823829	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2823832	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2823833	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2823848	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2823850	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2823851	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2823857	1.00[MEX][hapmap]
rs2823863	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2823881	0.86[CHB][hapmap]
rs2823884	0.86[CHB][hapmap]
rs2823892	0.86[CHB][hapmap]
rs58611293	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7277885	1.00[MEX][hapmap]
rs8126961	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131711	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131829	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133048	1.00[TSI][hapmap]
rs8134051	1.00[TSI][hapmap]
rs9305767	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9305768	0.84[GIH][hapmap];1.00[TSI][hapmap]
rs9305769	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs9975284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9975878	1.00[TSI][hapmap]
rs9976995	1.00[EUR][1000 genomes]
rs9981657	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9982229	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9982363	1.00[TSI][hapmap]
rs9982641	0.84[GIH][hapmap]
rs9984639	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9984951	1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][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	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17829000-17843600	Weak transcription	Brain Hippocampus Middle	brain
2	chr21:17830200-17842200	Weak transcription	Psoas Muscle	Psoas
3	chr21:17830400-17845600	Weak transcription	Right Atrium	heart
4	chr21:17835400-17846400	Weak transcription	Left Ventricle	heart
5	chr21:17836400-17846200	Weak transcription	Fetal Muscle Leg	muscle
6	chr21:17836600-17838800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:17836800-17848400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:17836800-17848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr21:17837000-17840000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:17837400-17848800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:17838000-17846200	Weak transcription	Ovary	ovary
12	chr21:17838000-17850200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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