Variant report

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189470555..189473256-chr2:189645948..189648747,2	MCF-7	breast:
2	chr2:189461232..189465911-chr2:189467782..189472229,8	MCF-7	breast:
3	chr2:189468993..189472398-chr2:189841824..189845993,5	MCF-7	breast:
4	chr2:189469791..189472156-chr2:189482699..189484262,2	K562	blood:
5	chr2:189469220..189472304-chr2:189586232..189590272,3	MCF-7	breast:
6	chr2:189468604..189471181-chr2:189847592..189850287,2	MCF-7	breast:
7	chr2:189469225..189471372-chr2:189486306..189488450,2	MCF-7	breast:
8	chr2:189470137..189473271-chr2:189629493..189632032,3	MCF-7	breast:
9	chr2:189468855..189473219-chr2:189714183..189718642,4	MCF-7	breast:
10	chr2:189470586..189472636-chr2:189478080..189480137,2	MCF-7	breast:
11	chr2:189469607..189471474-chr2:189493265..189494962,2	MCF-7	breast:
12	chr2:189470399..189472491-chr2:189712469..189714319,2	MCF-7	breast:
13	chr2:189468981..189471688-chr2:189714606..189717549,2	MCF-7	breast:
14	chr2:189469024..189471613-chr2:189556125..189558858,2	MCF-7	breast:
15	chr2:189470205..189472177-chr2:189487201..189489591,2	MCF-7	breast:
16	chr2:189469579..189472035-chr2:189650010..189652348,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221502	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10931369	0.93[EUR][1000 genomes]
rs10931376	0.83[EUR][1000 genomes]
rs11676859	0.80[EUR][1000 genomes]
rs11683089	0.94[EUR][1000 genomes]
rs11683183	0.94[EUR][1000 genomes]
rs11889220	0.89[EUR][1000 genomes]
rs12463744	0.93[EUR][1000 genomes]
rs13011602	0.83[EUR][1000 genomes]
rs13012993	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1354904	0.89[EUR][1000 genomes]
rs1354908	0.93[EUR][1000 genomes]
rs1354910	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1395868	0.83[EUR][1000 genomes]
rs1507560	0.92[EUR][1000 genomes]
rs1507561	0.93[EUR][1000 genomes]
rs1567184	0.93[EUR][1000 genomes]
rs1580993	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1911602	0.86[EUR][1000 genomes]
rs1911603	0.83[EUR][1000 genomes]
rs2350903	0.92[EUR][1000 genomes]
rs4146570	0.92[EUR][1000 genomes]
rs4591284	0.90[EUR][1000 genomes]
rs6708451	0.94[EUR][1000 genomes]
rs7596299	0.94[EUR][1000 genomes]
rs8273	0.94[EUR][1000 genomes]
rs955813	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189450400-189475000	Weak transcription	Aorta	Aorta
2	chr2:189464200-189475400	Weak transcription	Right Atrium	heart
3	chr2:189464400-189474400	Weak transcription	Fetal Lung	lung
4	chr2:189466200-189472400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:189466600-189472000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:189466600-189472200	Weak transcription	HSMM	muscle
7	chr2:189467200-189472200	Weak transcription	NHDF-Ad	bronchial
8	chr2:189467600-189471800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:189468200-189471000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:189470800-189475000	Weak transcription	Placenta	Placenta
11	chr2:189470800-189484000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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