Variant report

Variant	rs1005527
Chromosome Location	chr20:24100021-24100022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1012783	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1123671	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11697353	0.93[ASN][1000 genomes]
rs11699743	0.96[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12480224	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17249809	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1884519	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2070275	0.84[ASN][1000 genomes]
rs2103922	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35663453	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35815769	0.83[EUR][1000 genomes]
rs55921601	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6132695	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6132696	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6132700	0.81[EUR][1000 genomes]
rs6138201	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6138207	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6138210	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61657263	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7262390	0.81[EUR][1000 genomes]
rs761863	0.80[EUR][1000 genomes]
rs910776	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1056491	chr20:23955040-24105080	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3328348	chr20:24095746-24285830	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24097800-24100200	Enhancers	Osteobl	bone
2	chr20:24098200-24100200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr20:24098200-24100600	Enhancers	Ovary	ovary
4	chr20:24098200-24100800	Enhancers	HUVEC	blood vessel
5	chr20:24098400-24100800	Enhancers	Fetal Thymus	thymus
6	chr20:24098800-24100600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr20:24099000-24100200	Enhancers	Spleen	Spleen
8	chr20:24099200-24100200	Enhancers	NHEK	skin
9	chr20:24099200-24100400	Enhancers	Esophagus	oesophagus
10	chr20:24099200-24100600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:24099200-24100600	Enhancers	Fetal Stomach	stomach
12	chr20:24099200-24101000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr20:24099400-24100200	Enhancers	Duodenum Mucosa	Duodenum
14	chr20:24099600-24100600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr20:24099600-24102400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr20:24099800-24100200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:24099800-24100600	Enhancers	HMEC	breast
18	chr20:24099800-24103400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr20:24100000-24100200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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