Variant report

Variant	rs56382853
Chromosome Location	chr8:118427610-118427611
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	chr8:118421843..118423721-chr8:118427158..118429532,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1489408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1686344	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1686347	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1686348	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1695708	0.84[ASN][1000 genomes]
rs1695718	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1793740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1793742	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1793750	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2023138	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2635123	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2649096	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28368557	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs902054	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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	nsv1027039	chr8:118143762-118460954	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv831435	chr8:118266417-118466651	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv428525	chr8:118384428-118543349	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831436	chr8:118384463-118543297	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:118412200-118428400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:118423200-118428400	Weak transcription	NHEK	skin
3	chr8:118426800-118428000	Enhancers	Aorta	Aorta
4	chr8:118426800-118428000	Enhancers	HSMMtube	muscle
5	chr8:118426800-118429600	Enhancers	NHDF-Ad	bronchial
6	chr8:118426800-118429800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:118426800-118431200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:118427000-118428800	Enhancers	Fetal Lung	lung
9	chr8:118427000-118429200	Enhancers	Osteobl	bone
10	chr8:118427200-118429200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:118427200-118429200	Enhancers	Adipose Nuclei	Adipose
12	chr8:118427200-118429400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:118427200-118429400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:118427200-118431000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:118427400-118430800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:118427600-118428000	Enhancers	Fetal Stomach	stomach
17	chr8:118427600-118429200	Enhancers	NH-A	brain
18	chr8:118427600-118429400	Enhancers	HMEC	breast
19	chr8:118427600-118429600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:118427600-118429600	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:118427600-118429800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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