Variant report

No.	Distal block	Cell Line	Cell type
1	chr19:38845659..38847189-chr19:38864786..38866899,2	MCF-7	breast:
2	chr19:38836037..38838092-chr19:38843539..38846301,2	K562	blood:
3	chr19:38839098..38841898-chr19:38845182..38848381,4	K562	blood:
4	chr19:38841295..38843192-chr19:38844976..38847519,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11666449	0.89[EUR][1000 genomes]
rs11668651	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11669131	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11669230	0.87[EUR][1000 genomes]
rs11672219	0.87[EUR][1000 genomes]
rs11673012	0.80[AMR][1000 genomes]
rs11673203	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11673222	0.80[AMR][1000 genomes]
rs2302182	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2302183	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2304177	0.87[EUR][1000 genomes]
rs2368484	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2887262	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34989303	0.89[EUR][1000 genomes]
rs35308902	0.87[EUR][1000 genomes]
rs4386247	0.80[AMR][1000 genomes]
rs4801723	0.83[EUR][1000 genomes]
rs4802323	0.84[AFR][1000 genomes]
rs4802326	0.87[EUR][1000 genomes]
rs4802327	0.87[EUR][1000 genomes]
rs4804016	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4804046	0.86[AMR][1000 genomes]
rs57681346	0.86[EUR][1000 genomes]
rs60082376	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60487067	0.88[EUR][1000 genomes]
rs61091932	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7256575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106900	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2286473	C19orf33	cis	Heart Left Ventricle	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38828200-38852000	Weak transcription	Right Atrium	heart
2	chr19:38835200-38847000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:38835200-38852000	Weak transcription	Pancreas	Pancrea
4	chr19:38843000-38850400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:38844800-38847400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:38845200-38846000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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