Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53708590..53712002-chr3:53712853..53715298,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1356657	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1356658	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1401493	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1401498	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2612017	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2612021	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs2633711	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs2633712	1.00[AMR][1000 genomes]
rs2633733	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2680653	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680655	1.00[AMR][1000 genomes]
rs2680667	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6780679	1.00[AMR][1000 genomes]
rs6798837	1.00[AMR][1000 genomes]
rs72976490	1.00[AMR][1000 genomes]
rs7614320	1.00[YRI][hapmap]
rs7630968	1.00[AMR][1000 genomes]
rs898414	1.00[YRI][hapmap]
rs9311508	0.94[YRI][hapmap]
rs9845102	0.94[YRI][hapmap]
rs9857905	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs9875160	0.94[YRI][hapmap]
rs9875748	1.00[AMR][1000 genomes]
rs9878618	0.94[YRI][hapmap]

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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3339879	chr3:53713646-53714124	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53683200-53744200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:53698000-53714000	Weak transcription	Brain Substantia Nigra	brain
3	chr3:53709000-53714000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:53710200-53714000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:53711200-53714000	Weak transcription	Fetal Kidney	kidney
6	chr3:53711800-53714000	Weak transcription	Left Ventricle	heart
7	chr3:53711800-53714000	Weak transcription	Right Atrium	heart
8	chr3:53713200-53716000	Strong transcription	Fetal Intestine Large	intestine
9	chr3:53713600-53714400	Enhancers	Fetal Stomach	stomach
10	chr3:53713600-53714600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:53713600-53714600	Enhancers	Fetal Brain Female	brain
12	chr3:53713600-53714600	Enhancers	Fetal Lung	lung
13	chr3:53713600-53715000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:53713800-53714000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:53713800-53714000	Enhancers	Stomach Smooth Muscle	stomach
16	chr3:53713800-53714200	Flanking Active TSS	Fetal Brain Male	brain
17	chr3:53713800-53714600	Enhancers	Colon Smooth Muscle	Colon
18	chr3:53713800-53714600	Enhancers	Fetal Muscle Leg	muscle
19	chr3:53713800-53714600	Enhancers	Psoas Muscle	Psoas
20	chr3:53713800-53715800	Strong transcription	Fetal Intestine Small	intestine
21	chr3:53713800-53717600	Enhancers	Skeletal Muscle Female	skeletal muscle

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