Variant report

Variant	rs2039243
Chromosome Location	chr21:17859747-17859748
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10470096	1.00[ASN][1000 genomes]
rs10470198	1.00[ASN][1000 genomes]
rs10470199	1.00[ASN][1000 genomes]
rs10470200	0.88[ASN][1000 genomes]
rs13433398	1.00[ASN][1000 genomes]
rs13433444	1.00[ASN][1000 genomes]
rs2039242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2039244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2823832	1.00[ASN][1000 genomes]
rs2823833	1.00[ASN][1000 genomes]
rs2823836	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2823837	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28407677	0.82[ASN][1000 genomes]
rs28415058	1.00[ASN][1000 genomes]
rs28433186	1.00[ASN][1000 genomes]
rs28526796	1.00[ASN][1000 genomes]
rs28608983	1.00[ASN][1000 genomes]
rs28643005	1.00[ASN][1000 genomes]
rs28648637	1.00[ASN][1000 genomes]
rs28690432	1.00[ASN][1000 genomes]
rs28840743	0.88[ASN][1000 genomes]
rs28844023	0.82[ASN][1000 genomes]
rs28858813	0.88[ASN][1000 genomes]
rs28896613	0.82[ASN][1000 genomes]
rs2896760	1.00[ASN][1000 genomes]
rs57055406	0.88[ASN][1000 genomes]
rs57659737	0.88[ASN][1000 genomes]
rs58225448	1.00[ASN][1000 genomes]
rs58236716	1.00[ASN][1000 genomes]
rs59959567	0.88[ASN][1000 genomes]
rs60925168	0.88[ASN][1000 genomes]
rs61549904	1.00[ASN][1000 genomes]
rs73363422	0.88[ASN][1000 genomes]
rs73363426	0.88[ASN][1000 genomes]
rs73380342	1.00[ASN][1000 genomes]
rs73891591	1.00[ASN][1000 genomes]
rs73891592	1.00[ASN][1000 genomes]
rs73893713	1.00[ASN][1000 genomes]
rs8132964	1.00[ASN][1000 genomes]
rs9305766	0.88[ASN][1000 genomes]
rs9305767	1.00[ASN][1000 genomes]
rs9305768	1.00[ASN][1000 genomes]
rs9305769	1.00[ASN][1000 genomes]
rs9974386	1.00[ASN][1000 genomes]
rs9974447	0.82[ASN][1000 genomes]
rs9974519	1.00[ASN][1000 genomes]
rs9975047	0.88[ASN][1000 genomes]
rs9975202	1.00[ASN][1000 genomes]
rs9975582	0.88[ASN][1000 genomes]
rs9975640	1.00[ASN][1000 genomes]
rs9976077	1.00[ASN][1000 genomes]
rs9976648	1.00[ASN][1000 genomes]
rs9976729	0.82[ASN][1000 genomes]
rs9976887	1.00[ASN][1000 genomes]
rs9977372	0.88[ASN][1000 genomes]
rs9977640	0.82[ASN][1000 genomes]
rs9977666	0.82[ASN][1000 genomes]
rs9978828	1.00[ASN][1000 genomes]
rs9979222	1.00[ASN][1000 genomes]
rs9979766	0.88[ASN][1000 genomes]
rs9979904	0.88[ASN][1000 genomes]
rs9980133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9980149	0.94[ASN][1000 genomes]
rs9980549	0.82[ASN][1000 genomes]
rs9980810	1.00[ASN][1000 genomes]
rs9980959	1.00[ASN][1000 genomes]
rs9981432	0.82[ASN][1000 genomes]
rs9981465	0.94[ASN][1000 genomes]
rs9981657	1.00[ASN][1000 genomes]
rs9981699	1.00[ASN][1000 genomes]
rs9982188	0.82[ASN][1000 genomes]
rs9982511	1.00[ASN][1000 genomes]
rs9982641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9982850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9983223	1.00[ASN][1000 genomes]
rs9983295	1.00[ASN][1000 genomes]
rs9983298	1.00[ASN][1000 genomes]
rs9983466	1.00[ASN][1000 genomes]
rs9984183	1.00[ASN][1000 genomes]
rs9984263	1.00[ASN][1000 genomes]
rs9984639	0.88[ASN][1000 genomes]
rs9984788	1.00[ASN][1000 genomes]
rs9985004	1.00[ASN][1000 genomes]
rs9985090	1.00[ASN][1000 genomes]
rs9985151	0.88[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17840400-17860800	Weak transcription	HUVEC	blood vessel
2	chr21:17841000-17881800	Weak transcription	Hela-S3	cervix
3	chr21:17846800-17864000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr21:17849000-17863000	Weak transcription	Liver	Liver
5	chr21:17858000-17866200	Weak transcription	Left Ventricle	heart
6	chr21:17858400-17862200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:17858400-17865000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:17858600-17860800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:17858800-17868000	Weak transcription	Fetal Brain Female	brain
10	chr21:17859200-17860600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr21:17859400-17859800	Enhancers	Ovary	ovary
12	chr21:17859400-17860400	Enhancers	Brain Germinal Matrix	brain
13	chr21:17859400-17860800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr21:17859600-17861600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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