Variant report

Variant	rs12215692
Chromosome Location	chr6:23548426-23548427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:23542679..23544886-chr6:23548358..23549966,2	MCF-7	breast:
2	chr6:23547739..23548783-chr6:23658962..23660028,7	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1000105	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1014989	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12193599	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12200767	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201667	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12212208	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12213279	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17499234	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17499906	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17499955	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1923197	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1923198	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs197966	0.80[ASN][1000 genomes]
rs197968	0.80[ASN][1000 genomes]
rs199079	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs199081	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs199124	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57279011	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58834120	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59488676	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6456557	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6917610	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7746629	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746858	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7754459	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7766899	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs877615	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9466849	0.87[EUR][1000 genomes]
rs9466850	0.88[EUR][1000 genomes]
rs9466852	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422291	chr6:23466080-23600459	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1029930	chr6:23481989-24289948	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12215692	SLC17A3	cis	cerebellum	SCAN
rs12215692	ACOT13	cis	parietal	SCAN
rs12215692	HIST1H2AA	cis	parietal	SCAN
rs12215692	HIST1H4I	cis	cerebellum	SCAN
rs12215692	HIST1H2BB	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23547800-23548600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:23548000-23548800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:23548200-23548600	Enhancers	Adipose Nuclei	Adipose
4	chr6:23548200-23548600	Enhancers	Fetal Intestine Large	intestine
5	chr6:23548200-23549000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:23548200-23549400	Enhancers	Fetal Lung	lung
7	chr6:23548400-23548800	Enhancers	HUES6 Cell Line	embryonic stem cell

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