Variant report

Variant	rs16980789
Chromosome Location	chr21:28938729-28938730
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12482663	0.85[AMR][1000 genomes]
rs12482715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12483103	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16980849	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2187232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2226785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs242343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2831000	0.83[EUR][1000 genomes]
rs2831013	0.87[ASN][1000 genomes]
rs2849671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs364128	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs366156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs376727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs377920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs393474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs415034	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs422279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs428680	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs437275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs442437	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs847527	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs847530	1.00[AMR][1000 genomes];1.00[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	nsv834071	chr21:28806911-28988880	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv587346	chr21:28921690-28942922	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv587347	chr21:28930833-28951567	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv913669	chr21:28932087-28981553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28934000-28941800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr21:28934200-28938800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr21:28934600-28941200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:28936600-28939200	Enhancers	Osteobl	bone
5	chr21:28937600-28942200	Weak transcription	Fetal Lung	lung
6	chr21:28937800-28939800	Enhancers	NHEK	skin
7	chr21:28938000-28939600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:28938000-28940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:28938000-28941000	Weak transcription	HSMM	muscle
10	chr21:28938000-28941200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:28938000-28941200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:28938000-28941200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr21:28938000-28941200	Weak transcription	HSMMtube	muscle
14	chr21:28938000-28941800	Weak transcription	NHLF	lung
15	chr21:28938000-28942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:28938200-28939000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:28938400-28941800	Weak transcription	Fetal Muscle Leg	muscle
18	chr21:28938600-28939200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr21:28938600-28939800	Weak transcription	NHDF-Ad	bronchial

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