Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:90528653..90536149-chr5:90676184..90681293,9	MCF-7	breast:
2	chr5:90523944..90526729-chr5:90529568..90531548,2	MCF-7	breast:
3	chr5:90527291..90547553-chr5:90674171..90681359,33	K562	blood:
4	chr5:90526553..90528685-chr5:90530566..90532810,2	MCF-7	breast:
5	chr5:90530596..90533152-chr5:90665869..90667437,2	K562	blood:
6	chr5:90526439..90536882-chr5:90674746..90681872,22	K562	blood:
7	chr5:90527069..90534570-chr5:90675897..90682380,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13156743	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13166594	0.86[AMR][1000 genomes]
rs13172199	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2941890	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2941892	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973461	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2973464	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973467	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34422832	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs34581109	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34736685	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35059634	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs35363385	0.89[AMR][1000 genomes]
rs35584449	0.94[AMR][1000 genomes]
rs71637328	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71637330	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs71637331	1.00[AFR][1000 genomes];0.84[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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 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	chr5:90525000-90542800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:90528600-90533600	Weak transcription	K562	blood
3	chr5:90529800-90531400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:90530400-90531400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:90530400-90531400	Enhancers	Left Ventricle	heart
6	chr5:90530400-90531600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:90530400-90531600	Enhancers	Adipose Nuclei	Adipose
8	chr5:90530400-90531800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:90530400-90532400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:90530400-90533000	Enhancers	HepG2	liver
11	chr5:90530600-90531400	Enhancers	Liver	Liver
12	chr5:90530600-90531400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:90530600-90531400	Enhancers	Fetal Muscle Leg	muscle
14	chr5:90530600-90531400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:90530600-90531600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:90530600-90531600	Enhancers	NHDF-Ad	bronchial
17	chr5:90530600-90531800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:90530800-90531400	Enhancers	Fetal Lung	lung
19	chr5:90530800-90539600	Weak transcription	Pancreas	Pancrea
20	chr5:90531000-90531600	Active TSS	Fetal Brain Male	brain
21	chr5:90531400-90534200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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