Variant report

Variant	rs11072519
Chromosome Location	chr15:75278340-75278341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75248070..75250968-chr15:75277298..75278914,2	K562	blood:
2	chr15:75276799..75279129-chr15:75284441..75286029,2	K562	blood:
3	chr15:75227438..75230244-chr15:75276379..75279123,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178741	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000178718	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12591994	0.87[CEU][hapmap]
rs12592477	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs12593476	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12593542	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12594117	0.87[CEU][hapmap]
rs2304904	0.87[CEU][hapmap]
rs3812943	0.87[CEU][hapmap]
rs3812946	0.81[AMR][1000 genomes]
rs3816261	0.82[CEU][hapmap]
rs3910748	0.82[CEU][hapmap]
rs55877218	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56970592	0.82[AMR][1000 genomes]
rs58068887	0.82[AMR][1000 genomes]
rs58294763	0.83[AMR][1000 genomes]
rs58403754	0.82[AMR][1000 genomes]
rs61166993	0.82[AMR][1000 genomes]
rs6495135	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs6495136	0.83[AMR][1000 genomes]
rs6495137	0.82[AMR][1000 genomes]
rs6495138	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs6495140	0.82[AMR][1000 genomes]
rs6495142	0.87[CEU][hapmap]
rs7163390	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7166105	0.82[CEU][hapmap]
rs7167415	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs7168638	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7171200	0.87[YRI][hapmap]
rs7172715	0.87[CEU][hapmap];0.81[AMR][1000 genomes]
rs7172989	0.82[AMR][1000 genomes]
rs7173218	0.82[CEU][hapmap]
rs7174129	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs7179097	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7181942	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs7182286	0.82[AMR][1000 genomes]
rs7342591	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs7342601	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs73436579	0.82[AMR][1000 genomes]
rs74023908	0.83[AMR][1000 genomes]
rs74025863	0.82[AMR][1000 genomes]
rs8031545	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs8040961	0.82[AMR][1000 genomes]
rs9672996	0.82[AMR][1000 genomes]
rs9673012	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs9788648	0.82[AMR][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	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv1612	chr15:75247725-75281284	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv542435	chr15:75271788-75321117	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11072519	SCAMP5	cis	Artery Tibial	GTEx
rs11072519	PPCDC	cis	Thyroid	GTEx
rs11072519	SCAMP5	cis	Thyroid	GTEx
rs11072519	SCAMP5	cis	Esophagus Mucosa	GTEx
rs11072519	PPCDC	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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