Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163680651..163683431-chr6:163686172..163688713,2	K562	blood:
2	chr6:163684336..163687105-chr6:163835790..163838272,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1534938	0.86[EUR][1000 genomes]
rs2321509	0.85[EUR][1000 genomes]
rs2321510	0.85[EUR][1000 genomes]
rs2321511	0.85[EUR][1000 genomes]
rs4529279	0.85[EUR][1000 genomes]
rs4576224	0.85[EUR][1000 genomes]
rs6455888	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7383635	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7742060	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7742062	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753173	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9295217	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9295218	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295219	0.85[EUR][1000 genomes]
rs9346954	0.92[AMR][1000 genomes];1.00[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	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1026490	chr6:163133433-163705708	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869286	chr6:163146342-163697445	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1022610	chr6:163591786-163814041	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163680000-163686600	Enhancers	Fetal Heart	heart
2	chr6:163682000-163686400	Enhancers	Brain Cingulate Gyrus	brain
3	chr6:163682000-163686400	Enhancers	Brain Substantia Nigra	brain
4	chr6:163682000-163701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:163682200-163686600	Enhancers	Brain Hippocampus Middle	brain
6	chr6:163682600-163688000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:163682800-163686400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:163683200-163686400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:163683600-163686400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:163683800-163686400	Enhancers	Left Ventricle	heart
11	chr6:163684800-163686400	Enhancers	Right Ventricle	heart
12	chr6:163685000-163686600	Enhancers	Liver	Liver
13	chr6:163685200-163686400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:163685200-163686400	Enhancers	Pancreas	Pancrea
15	chr6:163685200-163686400	Enhancers	Stomach Mucosa	stomach
16	chr6:163685400-163686400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:163685400-163686400	Enhancers	Placenta	Placenta
18	chr6:163685400-163686400	Enhancers	Gastric	stomach
19	chr6:163685800-163688200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr6:163686000-163706000	Weak transcription	Brain Angular Gyrus	brain

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