Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:17938998..17939750-chr3:78979149..78979768,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12330873	1.00[EUR][1000 genomes]
rs28493625	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28722753	1.00[EUR][1000 genomes]
rs61270372	1.00[EUR][1000 genomes]
rs61490942	1.00[EUR][1000 genomes]
rs6788270	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894482	1.00[EUR][1000 genomes]
rs72894501	1.00[EUR][1000 genomes]
rs72896405	1.00[EUR][1000 genomes]
rs72896408	1.00[EUR][1000 genomes]
rs72896421	1.00[EUR][1000 genomes]
rs72896425	1.00[EUR][1000 genomes]
rs72896439	1.00[EUR][1000 genomes]
rs72896443	1.00[EUR][1000 genomes]
rs72896444	1.00[EUR][1000 genomes]
rs72896497	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72904254	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72904257	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72904261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906145	1.00[EUR][1000 genomes]
rs72906179	0.82[AFR][1000 genomes]
rs9808917	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9813971	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9817408	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9818374	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831603	1.00[EUR][1000 genomes]
rs9847098	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9849586	0.80[AMR][1000 genomes]
rs9858480	0.82[AFR][1000 genomes]
rs9872429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9876641	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010804	chr3:78739648-79087470	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv533681	chr3:78750924-79017336	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834744	chr3:78911545-79076470	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv470672	chr3:78913203-78985805	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv590734	chr3:78915205-78985805	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78959600-78987200	Weak transcription	Fetal Lung	lung
2	chr3:78963200-78991000	Weak transcription	Fetal Brain Male	brain
3	chr3:78967200-78987200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:78967200-79000600	Weak transcription	Fetal Kidney	kidney
5	chr3:78968800-78987200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:78969000-78990800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:78969000-78991000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:78969200-78990400	Weak transcription	NHEK	skin
9	chr3:78969600-79000600	Weak transcription	HepG2	liver
10	chr3:78970400-78991000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:78975600-78987200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:78977200-78990800	Weak transcription	Psoas Muscle	Psoas
13	chr3:78977400-78987200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:78977400-78987200	Weak transcription	Fetal Stomach	stomach
15	chr3:78978400-78992200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:78978800-78990800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:78979000-78979200	Enhancers	HUES6 Cell Line	embryonic stem cell

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