Variant report

Variant	rs7252852
Chromosome Location	chr19:41403325-41403326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41399908..41401580-chr19:41403170..41405832,2	K562	blood:
2	chr19:41402764..41404298-chr19:41428958..41430909,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256612	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10406188	0.94[ASN][1000 genomes]
rs10410750	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10411264	0.91[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10411877	0.89[ASN][1000 genomes]
rs10414481	0.94[ASN][1000 genomes]
rs10416968	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10418318	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10419393	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421888	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10423165	0.89[ASN][1000 genomes]
rs10424834	0.83[ASN][1000 genomes]
rs10425176	0.90[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap]
rs11083577	0.85[ASN][1000 genomes]
rs11083580	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11083582	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11665969	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12973598	0.86[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12975382	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12982395	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2316213	0.82[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2316215	0.82[ASN][1000 genomes]
rs2644904	0.88[ASN][1000 genomes]
rs28427254	0.81[ASN][1000 genomes]
rs28472879	0.94[ASN][1000 genomes]
rs28503746	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28619553	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2935235	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3797218	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3815714	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3852870	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3865457	0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs3869579	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3875159	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap]
rs3909341	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3909342	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4105141	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4105142	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4105143	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4142867	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4802095	0.84[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.87[ASN][1000 genomes]
rs4803389	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4803390	0.86[ASN][1000 genomes]
rs4803391	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803393	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs4803400	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007415	0.91[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs56081734	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61482096	0.85[ASN][1000 genomes]
rs6508953	0.91[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs67421541	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7254188	0.97[ASN][1000 genomes]
rs7258590	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7258728	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7343061	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8103288	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv3337314	chr19:41388910-41534583	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv960838	chr19:41401531-41413740	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7252852	SLC17A7	cis	parietal	SCAN
rs7252852	PRKD2	cis	parietal	SCAN
rs7252852	MEGF8	cis	parietal	SCAN
rs7252852	CABP5	cis	cerebellum	SCAN
rs7252852	NANOS2	cis	parietal	SCAN
rs7252852	ZNF541	cis	cerebellum	SCAN
rs7252852	RELB	cis	parietal	SCAN
rs7252852	HSD17B14	cis	cerebellum	SCAN
rs7252852	KPTN	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41402000-41404400	Enhancers	K562	blood
2	chr19:41402600-41403600	Enhancers	HepG2	liver
3	chr19:41402600-41405000	Enhancers	Liver	Liver
4	chr19:41402800-41403400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:41402800-41403400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:41403000-41414200	Weak transcription	Lung	lung
7	chr19:41403200-41403600	Flanking Active TSS	A549	lung

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