Variant report

Variant	rs58133420
Chromosome Location	chr5:57139697-57139698
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57138883..57141351-chr5:57755276..57756971,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2898029	0.95[EUR][1000 genomes]
rs58174590	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58436811	0.95[EUR][1000 genomes]
rs59596075	0.95[EUR][1000 genomes]
rs60783862	0.95[EUR][1000 genomes]
rs61514760	0.95[EUR][1000 genomes]
rs62360074	0.95[EUR][1000 genomes]
rs62360075	0.95[EUR][1000 genomes]
rs62360076	0.95[EUR][1000 genomes]
rs62360101	0.95[EUR][1000 genomes]
rs62360103	0.95[EUR][1000 genomes]
rs62360104	0.95[EUR][1000 genomes]
rs62360105	0.95[EUR][1000 genomes]
rs62360106	0.81[EUR][1000 genomes]
rs62360109	0.95[EUR][1000 genomes]
rs62360110	0.95[EUR][1000 genomes]
rs62360133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62360137	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6865443	0.95[EUR][1000 genomes]
rs6866728	0.95[EUR][1000 genomes]
rs7723284	0.95[EUR][1000 genomes]
rs960880	0.95[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57131400-57140000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:57131400-57141000	Weak transcription	Left Ventricle	heart
3	chr5:57136800-57141200	Enhancers	Fetal Muscle Leg	muscle
4	chr5:57137600-57142800	Weak transcription	Fetal Brain Male	brain
5	chr5:57137800-57141000	Weak transcription	Right Ventricle	heart
6	chr5:57138000-57140200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:57138000-57143000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:57138200-57139800	Enhancers	HSMM	muscle
9	chr5:57138200-57141000	Enhancers	NHEK	skin
10	chr5:57138200-57142800	Weak transcription	Fetal Lung	lung
11	chr5:57138200-57143600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:57138400-57140400	Weak transcription	Adipose Nuclei	Adipose
13	chr5:57138400-57140400	Weak transcription	Brain Germinal Matrix	brain
14	chr5:57138400-57143400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:57138600-57141200	Enhancers	HUVEC	blood vessel
16	chr5:57138800-57142600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:57138800-57151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:57139200-57140400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:57139200-57143800	Weak transcription	HMEC	breast
20	chr5:57139600-57139800	Enhancers	Placenta	Placenta
21	chr5:57139600-57139800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:57139600-57140800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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