Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:153100002..153102988-chr20:52599879..52602542,2	MCF-7	breast:
2	chr20:52600751..52601586-chr20:52609196..52610112,2	MCF-7	breast:
3	chr20:52591777..52592704-chr20:52600848..52601728,2	MCF-7	breast:
4	chr20:52600313..52601959-chr6:26156505..26158662,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158373	Chromatin interaction
ENSG00000168298	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10485439	1.00[MEX][hapmap]
rs12329598	0.81[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs16998695	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16998697	0.87[AMR][1000 genomes]
rs2276493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2870302	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56254566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56358601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6022891	0.89[AMR][1000 genomes]
rs6022893	0.81[ASW][hapmap];0.81[MKK][hapmap]
rs6022903	0.82[ASW][hapmap];0.81[MKK][hapmap]
rs6022909	0.82[ASW][hapmap]
rs60878965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6097710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6097712	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6097717	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6097720	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7271177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73914443	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73914470	0.80[AFR][1000 genomes]
rs740373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52581200-52610600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr20:52596400-52601400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr20:52599600-52602000	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr20:52600000-52601800	Strong transcription	Stomach Mucosa	stomach
6	chr20:52600200-52601400	Enhancers	Brain Anterior Caudate	brain
7	chr20:52600200-52602000	Enhancers	Fetal Muscle Leg	muscle
8	chr20:52600400-52602000	Enhancers	HSMM	muscle
9	chr20:52600600-52601600	Enhancers	Brain Hippocampus Middle	brain
10	chr20:52600600-52602200	Enhancers	HSMMtube	muscle
11	chr20:52600800-52601800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr20:52600800-52601800	Enhancers	Brain Cingulate Gyrus	brain
13	chr20:52601000-52601400	Enhancers	Brain Angular Gyrus	brain
14	chr20:52601000-52601400	Flanking Active TSS	Osteobl	bone
15	chr20:52601000-52601800	Enhancers	Brain Substantia Nigra	brain
16	chr20:52601000-52602000	Enhancers	Fetal Stomach	stomach
17	chr20:52601200-52601400	Enhancers	Adipose Nuclei	Adipose
18	chr20:52601200-52601400	Flanking Active TSS	NHDF-Ad	bronchial
19	chr20:52601200-52601600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr20:52601200-52601600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr20:52601200-52601800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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