Variant report

Variant	rs10246678
Chromosome Location	chr7:112614215-112614216
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	chr7:112608892..112612012-chr7:112612504..112614943,3	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10237980	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10275208	0.82[CHB][hapmap]
rs1227190	1.00[JPT][hapmap];0.82[TSI][hapmap]
rs1238698	1.00[JPT][hapmap];0.82[TSI][hapmap]
rs12535487	0.82[CEU][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12539085	0.82[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs1530756	0.82[CHB][hapmap]
rs1547554	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17160078	0.82[CHB][hapmap]
rs1718944	1.00[JPT][hapmap]
rs1718967	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1796492	1.00[JPT][hapmap];0.82[TSI][hapmap]
rs1796493	1.00[JPT][hapmap];0.82[TSI][hapmap]
rs1796516	1.00[JPT][hapmap];0.82[TSI][hapmap]
rs1996843	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2396574	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs2457	1.00[JPT][hapmap];0.82[TSI][hapmap]
rs2687267	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2708296	1.00[JPT][hapmap]
rs35548417	0.84[EUR][1000 genomes]
rs3997335	1.00[JPT][hapmap]
rs494324	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs548994	0.80[CEU][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs549688	0.84[CHD][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs552304	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs564494	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6466421	1.00[JPT][hapmap];0.82[TSI][hapmap]
rs660743	0.85[JPT][hapmap]
rs672911	1.00[JPT][hapmap]
rs685259	0.82[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs6944843	0.82[CHB][hapmap]
rs6953522	0.82[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7781871	0.82[CHB][hapmap]
rs7803405	1.00[JPT][hapmap]
rs7808616	0.82[CHB][hapmap]
rs821783	0.82[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs821785	0.82[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs821787	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs9969347	0.82[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3692941	chr7:112571420-112614215	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv1020911	chr7:112581515-112615249	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10246678	CAV2	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112594200-112630400	Weak transcription	Left Ventricle	heart
2	chr7:112614000-112614400	Flanking Active TSS	Osteobl	bone
3	chr7:112614000-112614600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:112614000-112614600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:112614200-112614400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:112614200-112614600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:112614200-112614600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:112614200-112614600	Active TSS	Right Atrium	heart
9	chr7:112614200-112615200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:112614200-112615400	Enhancers	Fetal Heart	heart

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