Variant report

Variant	rs59486872
Chromosome Location	chr5:111479472-111479473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111478102..111480790-chr5:111495538..111497576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238363	Chromatin interaction
ENSG00000224032	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10515440	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17134157	0.85[AFR][1000 genomes]
rs30290	1.00[ASN][1000 genomes]
rs376888	0.94[ASN][1000 genomes]
rs56729311	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57764435	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59723907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6594563	0.82[ASN][1000 genomes]
rs73227477	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv599370	chr5:111419303-111485372	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111477000-111479800	Enhancers	Fetal Lung	lung
2	chr5:111477000-111480200	Enhancers	Fetal Heart	heart
3	chr5:111478200-111479800	Enhancers	HUVEC	blood vessel
4	chr5:111478400-111479600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr5:111478400-111479600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr5:111478400-111479600	Enhancers	HMEC	breast
7	chr5:111478400-111480200	Enhancers	Osteobl	bone
8	chr5:111478600-111479600	Enhancers	Left Ventricle	heart
9	chr5:111478600-111479600	Enhancers	GM12878-XiMat	blood
10	chr5:111478800-111481600	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:111478800-111481600	Weak transcription	NHDF-Ad	bronchial
12	chr5:111478800-111481800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:111479000-111481200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:111479000-111481200	Weak transcription	Adipose Nuclei	Adipose
15	chr5:111479000-111481400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:111479000-111481400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:111479000-111481600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:111479000-111481800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr5:111479200-111481800	Weak transcription	NHEK	skin
20	chr5:111479400-111479600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:111479400-111479600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:111479400-111479600	Enhancers	Fetal Stomach	stomach
23	chr5:111479400-111479600	Enhancers	Right Atrium	heart
24	chr5:111479400-111482000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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