Variant report

Variant	rs12188094
Chromosome Location	chr5:90278217-90278218
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90271284..90273506-chr5:90277558..90279978,2	K562	blood:
2	chr5:90230829..90232483-chr5:90277236..90279567,2	MCF-7	breast:
3	chr5:90277606..90280581-chr5:90677468..90680460,3	K562	blood:
4	chr5:90184114..90185772-chr5:90277640..90279396,2	K562	blood:
5	chr5:90277623..90280018-chr5:90280599..90282346,2	MCF-7	breast:
6	chr5:90277567..90280732-chr5:90676978..90680706,5	MCF-7	breast:
7	chr5:90277606..90279758-chr5:90678960..90681501,2	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10074525	1.00[ASN][1000 genomes]
rs10514342	1.00[ASN][1000 genomes]
rs10514343	1.00[ASN][1000 genomes]
rs11738573	1.00[ASN][1000 genomes]
rs11743775	1.00[ASN][1000 genomes]
rs11744033	1.00[ASN][1000 genomes]
rs11744325	1.00[ASN][1000 genomes]
rs11949884	1.00[ASN][1000 genomes]
rs11951675	1.00[ASN][1000 genomes]
rs11952993	1.00[ASN][1000 genomes]
rs11955946	1.00[ASN][1000 genomes]
rs12186968	1.00[ASN][1000 genomes]
rs12187656	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187790	1.00[ASN][1000 genomes]
rs12188068	1.00[ASN][1000 genomes]
rs12188249	1.00[ASN][1000 genomes]
rs12188655	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12189005	1.00[ASN][1000 genomes]
rs17571029	1.00[ASN][1000 genomes]
rs17572843	1.00[ASN][1000 genomes]
rs17633498	0.90[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976566	1.00[ASN][1000 genomes]
rs2438348	1.00[ASN][1000 genomes]
rs3114653	1.00[ASN][1000 genomes]
rs34243354	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34381536	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34879738	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35060258	1.00[ASN][1000 genomes]
rs35299092	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55792004	1.00[ASN][1000 genomes]
rs55941525	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56051320	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56099704	1.00[ASN][1000 genomes]
rs56106025	1.00[ASN][1000 genomes]
rs56258383	1.00[ASN][1000 genomes]
rs62374052	1.00[ASN][1000 genomes]
rs62376462	1.00[ASN][1000 genomes]
rs62376463	1.00[ASN][1000 genomes]
rs62376490	1.00[ASN][1000 genomes]
rs62376491	1.00[ASN][1000 genomes]
rs6452927	1.00[ASN][1000 genomes]
rs66509877	1.00[ASN][1000 genomes]
rs6860216	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880626	1.00[ASN][1000 genomes]
rs6886773	1.00[ASN][1000 genomes]
rs6888672	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888979	1.00[ASN][1000 genomes]
rs6889138	1.00[ASN][1000 genomes]
rs72784617	1.00[ASN][1000 genomes]
rs72784624	1.00[ASN][1000 genomes]
rs72784689	1.00[ASN][1000 genomes]
rs72784700	1.00[ASN][1000 genomes]
rs72784702	1.00[ASN][1000 genomes]
rs7711168	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7721862	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723305	1.00[ASN][1000 genomes]
rs7729840	0.80[AMR][1000 genomes]
rs949789	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv462247	chr5:90249900-90298632	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv598928	chr5:90249900-90298632	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv598929	chr5:90258584-90302117	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598930	chr5:90258584-90303764	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv598931	chr5:90258584-90307152	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv882369	chr5:90275825-90344149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:90265800-90286200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:90266000-90281200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:90266200-90285600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:90266600-90281000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:90266600-90290600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:90267400-90281400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:90274400-90290600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:90277000-90278400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:90277200-90279000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:90277200-90281600	Enhancers	Hela-S3	cervix
11	chr5:90277600-90279200	Enhancers	A549	lung
12	chr5:90277800-90278600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:90277800-90279800	Enhancers	NH-A	brain
14	chr5:90278000-90280000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:90278200-90278800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:90278200-90279400	Enhancers	Osteobl	bone
17	chr5:90278200-90279800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:90278200-90279800	Enhancers	HepG2	liver

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