Variant report

Variant	rs239692
Chromosome Location	chr21:28677938-28677939
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs181145	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs183569	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs239696	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239697	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs239698	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs239699	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs239700	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs239701	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs239702	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239703	0.82[EUR][1000 genomes]
rs239705	0.95[EUR][1000 genomes]
rs239710	0.82[EUR][1000 genomes]
rs239716	0.82[EUR][1000 genomes]
rs239717	0.82[EUR][1000 genomes]
rs239718	0.82[EUR][1000 genomes]
rs239719	0.82[EUR][1000 genomes]
rs239720	0.82[EUR][1000 genomes]
rs239721	0.82[EUR][1000 genomes]
rs239723	0.82[EUR][1000 genomes]
rs239724	0.82[EUR][1000 genomes]
rs239726	1.00[ASN][1000 genomes]
rs239727	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs452621	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs457603	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs457695	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs457890	0.92[EUR][1000 genomes]
rs459745	0.90[EUR][1000 genomes]
rs461775	0.82[EUR][1000 genomes]
rs462549	0.80[EUR][1000 genomes]
rs464400	0.93[EUR][1000 genomes]
rs466769	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs467039	0.93[EUR][1000 genomes]
rs864036	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv834070	chr21:28546745-28709950	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv913662	chr21:28632360-28702427	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1831608	chr21:28659037-28738059	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv913665	chr21:28670180-28712418	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28669000-28679800	Weak transcription	Psoas Muscle	Psoas
2	chr21:28671800-28680400	Weak transcription	Ovary	ovary
3	chr21:28672400-28678000	Weak transcription	Fetal Stomach	stomach
4	chr21:28674400-28678600	Weak transcription	Fetal Lung	lung
5	chr21:28674600-28678400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:28677800-28678000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:28677800-28678600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:28677800-28678800	Enhancers	NHDF-Ad	bronchial

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