Variant report

Variant	rs2823725
Chromosome Location	chr21:17636991-17636992
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11088580	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11088581	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11911170	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11911298	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12053753	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13048000	0.90[EUR][1000 genomes]
rs1389071	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1389072	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1389073	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1389074	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1492957	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1492958	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1492960	0.92[CEU][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1786836	0.92[JPT][hapmap]
rs2131404	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2251006	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2251012	0.95[AMR][1000 genomes]
rs238946	0.85[CEU][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs238962	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs238963	0.98[EUR][1000 genomes]
rs238964	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs238999	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs239009	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs239010	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs2823684	0.93[JPT][hapmap]
rs2823686	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2823688	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2823689	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2823690	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2823691	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2823692	0.92[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2823693	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2823694	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2823695	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823696	0.96[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823697	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823698	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2823699	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2823700	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2823701	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2823702	0.95[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823703	0.95[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823704	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823705	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2823706	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs2823707	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2823708	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2823709	0.96[CEU][hapmap]
rs2823710	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2823711	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2823712	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2823713	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2823715	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823716	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2823717	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823718	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2823720	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823721	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823722	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823723	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2823724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2823726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2823727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2823728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2823729	0.82[CEU][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2823731	0.94[EUR][1000 genomes]
rs4381854	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4465860	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57097865	0.95[ASN][1000 genomes]
rs60963357	0.95[ASN][1000 genomes]
rs61333624	0.88[ASN][1000 genomes]
rs6517695	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7278407	0.80[ASN][1000 genomes]
rs73357138	0.95[ASN][1000 genomes]
rs8126809	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9637001	0.82[AMR][1000 genomes]
rs9808741	0.93[AMR][1000 genomes];0.93[EUR][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	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
2	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
3	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17631600-17638400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:17634800-17667000	Weak transcription	Hela-S3	cervix
3	chr21:17636200-17637200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:17636400-17637200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:17636400-17637200	Active TSS	Aorta	Aorta
6	chr21:17636400-17637200	Active TSS	Right Atrium	heart
7	chr21:17636400-17637200	Active TSS	NHDF-Ad	bronchial
8	chr21:17636400-17637200	Active TSS	Osteobl	bone
9	chr21:17636400-17651600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr21:17636600-17637000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:17636600-17637000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:17636600-17637200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr21:17636600-17637200	Active TSS	Adipose Nuclei	Adipose
14	chr21:17636800-17637000	Enhancers	HUVEC	blood vessel
15	chr21:17636800-17637200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:17636800-17637400	Active TSS	Primary hematopoietic stem cells	blood

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