Variant report

Variant	rs9805048
Chromosome Location	chr12:48403692-48403693
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	chr12:48394829..48397203-chr12:48403090..48404738,2	MCF-7	breast:
2	chr12:48401338..48404101-chr12:48405666..48408506,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1018973	0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs10492080	0.92[TSI][hapmap]
rs10783226	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10783227	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11612578	0.95[EUR][1000 genomes]
rs11612970	0.85[EUR][1000 genomes]
rs11613485	0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs12580764	0.86[EUR][1000 genomes]
rs1476608	0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs1635526	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1635528	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1635529	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17122611	0.86[EUR][1000 genomes]
rs17122612	0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs17122613	0.84[EUR][1000 genomes]
rs17122651	0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs1793931	0.83[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1793933	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1793955	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1793956	0.82[ASN][1000 genomes]
rs1859441	0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs1859444	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1968071	0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs1990029	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2286022	0.89[EUR][1000 genomes]
rs3742074	0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs3803183	0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3803184	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3825404	0.83[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4293182	0.84[EUR][1000 genomes]
rs4589362	0.81[EUR][1000 genomes]
rs4760611	0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs4760614	0.91[EUR][1000 genomes]
rs4760615	0.93[EUR][1000 genomes]
rs4760618	0.91[EUR][1000 genomes]
rs4760620	0.88[TSI][hapmap]
rs4760677	0.91[EUR][1000 genomes]
rs4760683	0.88[TSI][hapmap]
rs57054831	0.81[EUR][1000 genomes]
rs57380031	0.84[EUR][1000 genomes]
rs58046797	0.81[EUR][1000 genomes]
rs59766465	0.85[EUR][1000 genomes]
rs60567660	0.81[EUR][1000 genomes]
rs60629297	0.85[EUR][1000 genomes]
rs60681522	0.86[EUR][1000 genomes]
rs6580647	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580649	0.88[CEU][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs6580651	0.91[EUR][1000 genomes]
rs7132668	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7133249	0.86[EUR][1000 genomes]
rs726354	0.92[TSI][hapmap]
rs72644841	0.95[EUR][1000 genomes]
rs72644842	0.91[EUR][1000 genomes]
rs72644843	0.86[EUR][1000 genomes]
rs72644844	0.86[EUR][1000 genomes]
rs7296913	0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs7305954	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310579	0.93[EUR][1000 genomes]
rs7312326	0.81[EUR][1000 genomes]
rs7315258	0.88[TSI][hapmap]
rs7957764	0.93[EUR][1000 genomes]
rs7959755	0.91[EUR][1000 genomes]
rs7963934	0.81[EUR][1000 genomes]
rs7967762	0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs7971668	0.86[EUR][1000 genomes]
rs917055	0.94[GIH][hapmap]
rs9651993	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9805048	ASB8	cis	parietal	SCAN
rs9805048	ZNF641	cis	Whole Blood	GTEx
rs9805048	ASB8	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48399400-48415000	Weak transcription	Right Atrium	heart
2	chr12:48403000-48410200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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