Variant report

Variant	rs2823040
Chromosome Location	chr21:16457358-16457359
allele	A/C
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:14)

rs_ID	r²[population]
rs1003427	0.92[CEU][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1022450	0.82[EUR][1000 genomes]
rs1556286	0.92[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs2150369	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2403877	0.82[EUR][1000 genomes]
rs2823042	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2823049	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823054	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2823056	0.92[CEU][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs2823061	0.85[CEU][hapmap]
rs2823062	0.83[CEU][hapmap]
rs719112	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7282412	0.85[CEU][hapmap]
rs9977308	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.90[ASN][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	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16452000-16458600	Weak transcription	Pancreas	Pancrea
2	chr21:16456600-16457400	Enhancers	Fetal Heart	heart
3	chr21:16456600-16457800	Enhancers	HepG2	liver
4	chr21:16457000-16457400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:16457000-16457400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr21:16457000-16457400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr21:16457000-16457400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:16457000-16457400	Enhancers	Brain Cingulate Gyrus	brain
9	chr21:16457000-16457600	Enhancers	Hela-S3	cervix
10	chr21:16457200-16457600	Enhancers	Duodenum Mucosa	Duodenum
11	chr21:16457200-16457800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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