Variant report

Variant	rs6876245
Chromosome Location	chr5:42598509-42598510
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	chr5:42597349..42599170-chr5:43066263..43068120,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28943883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4361525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58233460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59707000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73085450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73085452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087431	0.89[AFR][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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42592000-42614400	Weak transcription	Aorta	Aorta
2	chr5:42592200-42600000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:42592200-42605800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:42593000-42601200	Enhancers	Liver	Liver
5	chr5:42595200-42599600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:42595200-42600400	Enhancers	Fetal Heart	heart
7	chr5:42595600-42599000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr5:42595800-42598600	Enhancers	Psoas Muscle	Psoas
9	chr5:42595800-42598600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:42596600-42599000	Enhancers	HMEC	breast
11	chr5:42597000-42605600	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:42597400-42598600	Enhancers	Right Atrium	heart
13	chr5:42597800-42598600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:42598000-42598800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:42598000-42598800	Enhancers	NHEK	skin
16	chr5:42598200-42598600	Enhancers	Colon Smooth Muscle	Colon
17	chr5:42598200-42598800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:42598200-42598800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:42598200-42598800	Enhancers	Adipose Nuclei	Adipose
20	chr5:42598200-42599000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:42598400-42598600	Enhancers	Fetal Lung	lung
22	chr5:42598400-42598600	Enhancers	Left Ventricle	heart
23	chr5:42598400-42598600	Enhancers	Right Ventricle	heart
24	chr5:42598400-42599000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:42598400-42600400	Weak transcription	Placenta	Placenta

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