Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64272242..64274132-chr11:64301109..64303150,2	K562	blood:
2	chr11:64200040..64202027-chr11:64300129..64302413,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11231808	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231814	0.90[MEX][hapmap];0.85[EUR][1000 genomes]
rs11231815	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11231816	0.89[CEU][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap]
rs11231822	0.81[ASN][1000 genomes]
rs12362644	0.89[CEU][hapmap];0.85[CHB][hapmap];0.83[GIH][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12789978	0.87[EUR][1000 genomes]
rs12808503	0.81[ASN][1000 genomes]
rs17300741	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs2277312	0.81[ASN][1000 genomes]
rs34484509	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3759053	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs3782099	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs4930194	0.80[EUR][1000 genomes]
rs4930195	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4930420	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4930423	0.88[CEU][hapmap]
rs6591855	1.00[JPT][hapmap]
rs6591859	0.89[CEU][hapmap];0.85[CHB][hapmap];0.83[GIH][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7112596	1.00[JPT][hapmap]
rs7123852	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127435	1.00[JPT][hapmap]
rs7929308	0.81[ASN][1000 genomes]
rs7936185	0.96[EUR][1000 genomes]
rs7940321	0.81[ASN][1000 genomes]
rs7943154	0.85[CHB][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	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1035485	chr11:64228847-64354869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12417589	SNORD25	cis	cerebellum	SCAN
rs12417589	MARK2	cis	parietal	SCAN
rs12417589	RTN3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64292800-64304000	Weak transcription	Right Atrium	heart
2	chr11:64299000-64303000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:64299800-64305600	Weak transcription	Fetal Thymus	thymus
4	chr11:64300200-64303400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:64300600-64301800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:64300600-64302000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:64301000-64301800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:64301000-64301800	Enhancers	HMEC	breast
9	chr11:64301400-64302400	Enhancers	Placenta	Placenta
10	chr11:64301600-64302000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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