Variant report

Variant	rs73386080
Chromosome Location	chr21:29067076-29067077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11702066	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12482497	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12482624	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12482895	0.80[ASN][1000 genomes]
rs12483350	0.83[ASN][1000 genomes]
rs12483741	0.83[ASN][1000 genomes]
rs16980990	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16981008	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16981014	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2831041	0.83[ASN][1000 genomes]
rs2831042	0.83[ASN][1000 genomes]
rs2831043	0.83[ASN][1000 genomes]
rs2831044	0.83[ASN][1000 genomes]
rs2831045	0.81[ASN][1000 genomes]
rs2831048	0.83[ASN][1000 genomes]
rs2831049	0.83[ASN][1000 genomes]
rs2831050	0.83[ASN][1000 genomes]
rs2831053	0.83[ASN][1000 genomes]
rs4817183	0.85[ASN][1000 genomes]
rs57688665	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7275935	0.82[ASN][1000 genomes]
rs7278716	0.81[ASN][1000 genomes]
rs73384066	0.84[ASN][1000 genomes]
rs73384078	0.83[ASN][1000 genomes]
rs73384086	0.82[ASN][1000 genomes]
rs73386055	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73388100	0.80[ASN][1000 genomes]
rs928273	0.83[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:29064800-29067400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:29065800-29073600	Weak transcription	HSMMtube	muscle
3	chr21:29066200-29067200	Enhancers	Osteobl	bone
4	chr21:29066200-29067400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:29066200-29072400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:29066200-29072400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr21:29066200-29072800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:29066200-29072800	Weak transcription	NHDF-Ad	bronchial
9	chr21:29066200-29073600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:29066400-29067200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:29066600-29067600	Enhancers	HMEC	breast
12	chr21:29066800-29067400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr21:29066800-29067400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr21:29066800-29068000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr21:29067000-29067200	Enhancers	HSMM	muscle
16	chr21:29067000-29067400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:29067000-29067400	Enhancers	Fetal Heart	heart
18	chr21:29067000-29067800	Enhancers	Cortex derived primary cultured neurospheres	brain

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