Variant report

Variant	rs57200729
Chromosome Location	chr5:57080432-57080433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57077135..57082051-chr5:57753020..57756988,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10447121	0.90[EUR][1000 genomes]
rs10940578	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12186536	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12515493	0.90[EUR][1000 genomes]
rs12515736	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12517238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12517867	0.90[EUR][1000 genomes]
rs12522697	0.88[EUR][1000 genomes]
rs1432482	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1544621	0.90[EUR][1000 genomes]
rs17690351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17690411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17746879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17746968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2160058	0.90[EUR][1000 genomes]
rs2192367	0.88[EUR][1000 genomes]
rs56830694	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58610852	0.89[EUR][1000 genomes]
rs58632739	0.90[EUR][1000 genomes]
rs6450432	0.90[EUR][1000 genomes]
rs6450433	0.90[EUR][1000 genomes]
rs6450434	0.90[EUR][1000 genomes]
rs6450435	0.90[EUR][1000 genomes]
rs6450437	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6870485	0.88[EUR][1000 genomes]
rs6878042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891648	0.90[EUR][1000 genomes]
rs6894375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751323	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72767441	0.89[EUR][1000 genomes]
rs72767444	0.90[EUR][1000 genomes]
rs741181	0.89[EUR][1000 genomes]
rs7718447	0.90[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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57076400-57081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:57079000-57080600	Enhancers	Fetal Muscle Leg	muscle
3	chr5:57079000-57080800	Enhancers	Fetal Lung	lung
4	chr5:57079400-57081200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:57079800-57080600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:57079800-57080800	Enhancers	HSMM	muscle
7	chr5:57080000-57080600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:57080000-57080600	Enhancers	Stomach Mucosa	stomach
9	chr5:57080000-57080800	Enhancers	HMEC	breast
10	chr5:57080200-57080600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:57080200-57080600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:57080200-57080600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:57080200-57080600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr5:57080200-57080800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:57080200-57080800	Enhancers	Placenta	Placenta
16	chr5:57080200-57080800	Enhancers	Psoas Muscle	Psoas
17	chr5:57080200-57080800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr5:57080200-57080800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr5:57080200-57081200	Enhancers	NHDF-Ad	bronchial
20	chr5:57080400-57080600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:57080400-57080600	Enhancers	Osteobl	bone
22	chr5:57080400-57080800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:57080400-57080800	Enhancers	HSMMtube	muscle

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