Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80201693..80203729-chr16:80204153..80206753,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11150250	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11642380	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs11642712	0.88[ASW][hapmap];0.85[LWK][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap]
rs11643917	0.81[EUR][1000 genomes]
rs11646831	0.95[ASN][1000 genomes]
rs11647537	0.82[AFR][1000 genomes]
rs12926031	0.81[AFR][1000 genomes]
rs12927541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12927726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12927869	0.88[ASN][1000 genomes]
rs12928708	0.83[AFR][1000 genomes]
rs12930060	0.84[ASN][1000 genomes]
rs1478504	0.90[AFR][1000 genomes]
rs17734652	0.89[ASN][1000 genomes]
rs17796688	0.89[ASN][1000 genomes]
rs2008481	0.93[AFR][1000 genomes]
rs34149818	0.90[ASN][1000 genomes]
rs34758462	0.88[ASN][1000 genomes]
rs4300652	0.82[AFR][1000 genomes]
rs62049508	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6564744	0.80[EUR][1000 genomes]
rs7191912	0.81[AFR][1000 genomes]
rs8060663	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9935498	0.95[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[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	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16944269	C16orf46	cis	cerebellum	SCAN
rs16944269	VAT1L	cis	cerebellum	SCAN
rs16944269	CFDP1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80193600-80207600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr16:80199600-80207800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:80201600-80205200	Weak transcription	Fetal Kidney	kidney
4	chr16:80202400-80207800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:80202400-80207800	Weak transcription	HSMM	muscle

Quick Search: