Variant report

Variant	rs57133261
Chromosome Location	chr5:1953917-1953918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10055530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10055535	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10055976	0.96[AFR][1000 genomes]
rs10057823	0.88[AFR][1000 genomes]
rs10067670	0.86[EUR][1000 genomes]
rs10073095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13356887	0.86[EUR][1000 genomes]
rs13361234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16902204	0.86[EUR][1000 genomes]
rs2087139	0.86[EUR][1000 genomes]
rs2087140	0.86[EUR][1000 genomes]
rs28394513	0.96[AFR][1000 genomes]
rs28408700	1.00[EUR][1000 genomes]
rs2883062	1.00[EUR][1000 genomes]
rs4975773	0.94[AFR][1000 genomes]
rs55989314	0.86[EUR][1000 genomes]
rs58615662	0.86[EUR][1000 genomes]
rs6861498	0.86[EUR][1000 genomes]
rs6863193	0.80[EUR][1000 genomes]
rs6863375	0.86[EUR][1000 genomes]
rs73732507	0.86[EUR][1000 genomes]
rs73735137	0.86[EUR][1000 genomes]
rs73735140	0.86[EUR][1000 genomes]
rs73735141	0.86[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	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv915846	chr5:1891098-2167677	Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1026930	chr5:1898993-2126061	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv508344	chr5:1905222-1976860	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv881562	chr5:1907974-1976187	Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv427705	chr5:1950467-2115059	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1939000-1965600	Weak transcription	Brain Angular Gyrus	brain
2	chr5:1949800-1960600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:1950600-1963800	Weak transcription	Right Ventricle	heart
4	chr5:1951400-1954000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:1951800-1961400	Weak transcription	HMEC	breast
6	chr5:1952000-1960600	Weak transcription	Gastric	stomach
7	chr5:1952000-1960600	Weak transcription	Pancreas	Pancrea
8	chr5:1952200-1962000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:1952200-1962200	Weak transcription	NHEK	skin
10	chr5:1952600-1954000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:1953200-1960600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:1953200-1960600	Weak transcription	Fetal Heart	heart
13	chr5:1953400-1960600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:1953600-1954000	Bivalent Enhancer	Fetal Stomach	stomach
15	chr5:1953800-1954000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:1953800-1954000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:1953800-1954200	ZNF genes & repeats	Ovary	ovary

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