Variant report

Variant	rs235933
Chromosome Location	chr21:28640665-28640666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1034355	0.98[ASN][1000 genomes]
rs1038023	0.85[ASN][1000 genomes]
rs151452	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171008	0.81[ASN][1000 genomes]
rs2156292	0.93[ASN][1000 genomes]
rs235927	0.95[ASN][1000 genomes]
rs235928	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235929	0.97[ASN][1000 genomes]
rs235930	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235931	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235932	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235934	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237045	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237046	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237047	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237048	0.97[ASN][1000 genomes]
rs28555426	0.89[ASN][1000 genomes]
rs464652	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847700	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv587344	chr21:28631839-28659396	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv587345	chr21:28631839-28663985	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv913662	chr21:28632360-28702427	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv913663	chr21:28635971-28670180	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28618400-28642000	Weak transcription	Ovary	ovary
2	chr21:28638800-28647800	Weak transcription	Adipose Nuclei	Adipose
3	chr21:28640200-28641400	Enhancers	Brain Substantia Nigra	brain
4	chr21:28640200-28641800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr21:28640200-28642800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:28640200-28642800	Enhancers	NHDF-Ad	bronchial
7	chr21:28640200-28643000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:28640200-28643000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr21:28640200-28643000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:28640200-28643200	Enhancers	Osteobl	bone
11	chr21:28640400-28641200	Enhancers	Brain Hippocampus Middle	brain
12	chr21:28640400-28641600	Enhancers	Hela-S3	cervix
13	chr21:28640400-28642800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr21:28640400-28642800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:28640400-28642800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:28640400-28642800	Enhancers	HSMM	muscle
17	chr21:28640400-28642800	Enhancers	NH-A	brain
18	chr21:28640600-28641600	Enhancers	Colon Smooth Muscle	Colon
19	chr21:28640600-28641600	Weak transcription	HMEC	breast
20	chr21:28640600-28641800	Weak transcription	Fetal Kidney	kidney
21	chr21:28640600-28642400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr21:28640600-28642400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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