Variant report

No.	Distal block	Cell Line	Cell type
1	chr19:51765820..51768667-chr19:51769261..51772147,2	K562	blood:
2	chr19:51770888..51773726-chr19:51775825..51777713,2	K562	blood:
3	chr19:51770982..51772847-chr19:51774200..51775938,2	K562	blood:
4	chr19:51770892..51772482-chr19:51774022..51775700,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10408324	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs10416845	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs10425711	0.83[CEU][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs12608738	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12608749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972826	0.86[CEU][hapmap];0.95[EUR][1000 genomes]
rs12972888	0.87[CEU][hapmap];0.94[EUR][1000 genomes]
rs12972903	0.83[CEU][hapmap];0.94[EUR][1000 genomes]
rs12975233	0.83[CEU][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs1399838	0.83[CEU][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs28536511	0.97[EUR][1000 genomes]
rs2898694	0.93[EUR][1000 genomes]
rs34589735	0.95[EUR][1000 genomes]
rs58738030	0.94[EUR][1000 genomes]
rs7249149	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs7249595	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs7249916	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs7258998	0.96[CEU][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs8110859	0.83[CEU][hapmap];0.94[EUR][1000 genomes]
rs8111074	0.83[CEU][hapmap];0.94[EUR][1000 genomes]
rs8111217	0.83[CEU][hapmap];0.94[EUR][1000 genomes]
rs8111393	0.83[CEU][hapmap];0.94[EUR][1000 genomes]
rs8111753	0.83[CEU][hapmap];0.94[EUR][1000 genomes]
rs8113446	0.93[EUR][1000 genomes]
rs8113548	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv1060026	chr19:51751123-51773175	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17716016	FIZ1	cis	cerebellum	SCAN
rs17716016	NLRP2	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51762600-51772600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:51767600-51773800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr19:51770400-51777400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:51771400-51771600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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