Variant report

Variant	rs6580504
Chromosome Location	chr5:147273123-147273124
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	chr5:147272144..147273653-chr5:147300672..147302249,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250346	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1432971	0.81[EUR][1000 genomes]
rs2288781	0.85[EUR][1000 genomes]
rs60783706	1.00[ASN][1000 genomes]
rs6580505	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865419	1.00[EUR][1000 genomes]
rs6889356	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890965	1.00[EUR][1000 genomes]
rs73261362	0.94[EUR][1000 genomes]
rs73261372	0.94[EUR][1000 genomes]
rs73263261	1.00[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	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv329560	chr5:147269326-147278710	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147262800-147275600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:147271400-147274200	Enhancers	Hela-S3	cervix
3	chr5:147271600-147273200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:147271600-147273400	Enhancers	Osteobl	bone
5	chr5:147271600-147274600	Enhancers	HUVEC	blood vessel
6	chr5:147271800-147273400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:147272000-147273800	Enhancers	HMEC	breast
8	chr5:147272000-147275200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:147272200-147273200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:147272200-147273600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:147272200-147274000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:147272200-147274200	Enhancers	NHEK	skin
13	chr5:147272400-147273200	Enhancers	Pancreas	Pancrea
14	chr5:147272400-147273600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:147272600-147273400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:147272600-147273400	Enhancers	Placenta	Placenta
17	chr5:147272800-147273400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:147272800-147278400	Weak transcription	Stomach Mucosa	stomach
19	chr5:147272800-147279600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:147273000-147273200	Enhancers	Right Ventricle	heart
21	chr5:147273000-147273400	Enhancers	Aorta	Aorta
22	chr5:147273000-147273400	Enhancers	NH-A	brain
23	chr5:147273000-147273600	Enhancers	Esophagus	oesophagus
24	chr5:147273000-147273800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:147273000-147278200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:147273000-147280600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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