Variant report

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71446084..71447364-chr16:71575875..71576763,3	MCF-7	breast:
2	chr16:71446996..71448585-chr16:71450249..71452209,2	MCF-7	breast:
3	chr16:71445815..71447496-chr16:71533388..71534585,10	MCF-7	breast:
4	chr16:71446743..71447305-chr16:71474312..71475050,2	MCF-7	breast:
5	chr16:71446276..71447832-chr16:71533331..71534425,15	K562	blood:
6	chr16:71445857..71447501-chr16:71527654..71528626,7	MCF-7	breast:
7	chr16:71446668..71447388-chr16:71644674..71645331,3	MCF-7	breast:
8	chr16:71446400..71447280-chr20:56176743..56177607,2	MCF-7	breast:

No data

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10468265	0.90[CEU][hapmap]
rs12149254	0.88[EUR][1000 genomes]
rs12325234	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12444212	0.81[EUR][1000 genomes]
rs12444714	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.92[EUR][1000 genomes]
rs12448992	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12918320	1.00[CEU][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs12919092	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs12922597	0.97[EUR][1000 genomes]
rs12934739	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16972808	0.90[CEU][hapmap];0.82[TSI][hapmap]
rs16973112	0.90[CEU][hapmap];0.82[TSI][hapmap]
rs16973190	0.90[CEU][hapmap]
rs17343777	0.81[EUR][1000 genomes]
rs2052873	0.90[CEU][hapmap];0.82[TSI][hapmap]
rs34400718	0.92[EUR][1000 genomes]
rs35166226	0.83[EUR][1000 genomes]
rs3886947	0.89[CEU][hapmap]
rs6499520	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs66778248	0.92[EUR][1000 genomes]
rs7188475	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8051439	0.89[CEU][hapmap]
rs8056735	0.90[CEU][hapmap];0.82[TSI][hapmap]

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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs12922830	C16orf86	cis	parietal	SCAN
rs12922830	CMTM1	cis	cerebellum	SCAN
rs12922830	CTCF	cis	cerebellum	SCAN
rs12922830	TXNL4B	cis	parietal	SCAN
rs12922830	ZNF23	cis	parietal	SCAN
rs12922830	MTSS1L	cis	parietal	SCAN
rs12922830	COG4	cis	parietal	SCAN
rs12922830	RP11-510M2.10	cis	Skin Sun Exposed Lower leg	GTEx
rs12922830	CBFB	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71446800-71447600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:71446800-71459600	Weak transcription	Spleen	Spleen
3	chr16:71447000-71447400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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