Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38834987..38838242-chr19:38838656..38842905,5	MCF-7	breast:
2	chr19:38839437..38845026-chr19:38862738..38867726,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099341	Chromatin interaction
ENSG00000099338	Chromatin interaction

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

rs_ID	r²[population]
rs1060454	0.88[ASN][1000 genomes]
rs2270092	0.80[ASN][1000 genomes]
rs2302228	0.82[ASN][1000 genomes]
rs28384479	0.82[ASN][1000 genomes]
rs3745953	0.88[ASN][1000 genomes]
rs3760884	0.82[ASN][1000 genomes]
rs3885340	0.87[EUR][1000 genomes]
rs61734615	0.87[EUR][1000 genomes]
rs73037321	0.87[EUR][1000 genomes]
rs73037333	0.84[EUR][1000 genomes]
rs73037343	0.87[EUR][1000 genomes]
rs73037346	0.87[EUR][1000 genomes]
rs73041292	0.87[EUR][1000 genomes]
rs73043012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73043013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73043014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73043015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73043019	1.00[EUR][1000 genomes]
rs73043021	1.00[EUR][1000 genomes]
rs73043022	1.00[EUR][1000 genomes]
rs73043028	1.00[EUR][1000 genomes]
rs73043029	0.97[EUR][1000 genomes]
rs73043030	0.84[EUR][1000 genomes]
rs73043033	0.84[EUR][1000 genomes]
rs73043098	0.81[EUR][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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38828200-38841400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:38828200-38842000	Weak transcription	Brain Angular Gyrus	brain
3	chr19:38828200-38842600	Weak transcription	Esophagus	oesophagus
4	chr19:38828200-38844800	Weak transcription	Brain Substantia Nigra	brain
5	chr19:38828200-38852000	Weak transcription	Right Atrium	heart
6	chr19:38830200-38844800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:38834200-38845000	Weak transcription	Spleen	Spleen
8	chr19:38835000-38842600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:38835200-38842600	Weak transcription	Fetal Muscle Leg	muscle
10	chr19:38835200-38847000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:38835200-38852000	Weak transcription	Pancreas	Pancrea
12	chr19:38836800-38845000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:38837400-38842600	Weak transcription	Brain Germinal Matrix	brain
14	chr19:38837400-38842600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr19:38837800-38843000	Weak transcription	Fetal Intestine Small	intestine
16	chr19:38837800-38843800	Weak transcription	Fetal Brain Female	brain
17	chr19:38838200-38841800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr19:38838200-38843200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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