Variant report

Variant	rs73390017
Chromosome Location	chr21:29098506-29098507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10211950	0.82[ASN][1000 genomes]
rs12329918	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1346930	0.83[ASN][1000 genomes]
rs1367714	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1367716	0.82[ASN][1000 genomes]
rs1367717	0.82[ASN][1000 genomes]
rs1579524	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1835647	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2116251	0.82[ASN][1000 genomes]
rs2831134	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2831137	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2831138	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28428846	0.85[ASN][1000 genomes]
rs3989358	0.88[ASN][1000 genomes]
rs61643255	0.87[ASN][1000 genomes]
rs7275370	0.83[ASN][1000 genomes]
rs7275444	0.83[ASN][1000 genomes]
rs7281390	0.85[ASN][1000 genomes]
rs7281763	0.82[ASN][1000 genomes]
rs8127639	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs933156	0.82[ASN][1000 genomes]
rs9981712	0.83[ASN][1000 genomes]
rs9982947	0.89[ASN][1000 genomes]
rs9983029	0.82[ASN][1000 genomes]
rs9983323	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1059423	chr21:28957144-29306656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv913670	chr21:29022265-29525767	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1059134	chr21:29061408-29188185	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:29095000-29106400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:29097600-29099800	Enhancers	Colon Smooth Muscle	Colon
3	chr21:29097800-29099600	Enhancers	Rectal Smooth Muscle	rectum
4	chr21:29098200-29098600	Enhancers	HSMMtube	muscle
5	chr21:29098200-29099000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:29098200-29099000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:29098200-29099000	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr21:29098200-29099000	Enhancers	Stomach Smooth Muscle	stomach
9	chr21:29098200-29099200	Enhancers	Duodenum Mucosa	Duodenum
10	chr21:29098400-29098600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:29098400-29099000	Enhancers	Lung	lung
12	chr21:29098400-29099200	Enhancers	Stomach Mucosa	stomach

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