Variant report

Variant	rs72760270
Chromosome Location	chr5:57924233-57924234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10038836	1.00[AFR][1000 genomes]
rs10055378	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10055388	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10055649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058168	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10060872	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10066482	1.00[AFR][1000 genomes]
rs10070606	0.87[AFR][1000 genomes]
rs10071864	0.84[EUR][1000 genomes]
rs10078211	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10079823	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10471459	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10472068	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10472069	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10472070	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10514876	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10514877	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11750820	1.00[AFR][1000 genomes]
rs11750857	0.87[AFR][1000 genomes]
rs12152774	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12153291	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13354829	1.00[AFR][1000 genomes]
rs13358097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13436622	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17280636	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17282012	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17348080	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1876690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2194037	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2279981	1.00[ASN][1000 genomes]
rs35694320	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5011219	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6877247	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72760285	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72760294	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs753219	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs753220	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9283719	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9292171	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9292173	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1029145	chr5:57905821-58141221	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830311	chr5:57912546-58105636	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57918400-57924400	Weak transcription	Small Intestine	intestine
2	chr5:57919800-57924400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:57919800-57924400	Weak transcription	Fetal Lung	lung
4	chr5:57919800-57925000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:57920200-57924400	Weak transcription	Fetal Stomach	stomach
6	chr5:57920200-57924400	Weak transcription	Right Atrium	heart
7	chr5:57921000-57933000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:57924000-57925400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:57924000-57925400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:57924200-57924400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr5:57924200-57925400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:57924200-57925400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr5:57924200-57925600	Enhancers	Adipose Nuclei	Adipose
14	chr5:57924200-57925600	Enhancers	Pancreas	Pancrea
15	chr5:57924200-57926000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:57924200-57926000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:57924200-57926200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:57924200-57927200	Enhancers	Fetal Intestine Large	intestine
19	chr5:57924200-57927200	Enhancers	Fetal Intestine Small	intestine
20	chr5:57924200-57928400	Enhancers	Stomach Mucosa	stomach

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