Variant report

Variant	rs323560
Chromosome Location	chr5:40872664-40872665
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	chr5:40833772..40836669-chr5:40869821..40875738,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10064232	0.94[ASN][1000 genomes]
rs1070445	1.00[ASN][1000 genomes]
rs1097592	1.00[ASN][1000 genomes]
rs1097604	1.00[ASN][1000 genomes]
rs1530811	0.94[ASN][1000 genomes]
rs154272	0.81[ASN][1000 genomes]
rs154273	0.94[ASN][1000 genomes]
rs154274	1.00[ASN][1000 genomes]
rs1631661	0.94[ASN][1000 genomes]
rs1645509	0.81[ASN][1000 genomes]
rs166282	0.81[ASN][1000 genomes]
rs1697929	1.00[ASN][1000 genomes]
rs1697937	1.00[ASN][1000 genomes]
rs173619	0.81[ASN][1000 genomes]
rs181820	0.81[ASN][1000 genomes]
rs181821	0.81[ASN][1000 genomes]
rs1833892	0.94[ASN][1000 genomes]
rs184436	1.00[ASN][1000 genomes]
rs187274	0.94[ASN][1000 genomes]
rs192962	1.00[ASN][1000 genomes]
rs2262009	1.00[ASN][1000 genomes]
rs249439	0.81[ASN][1000 genomes]
rs249443	0.94[ASN][1000 genomes]
rs249444	0.94[ASN][1000 genomes]
rs29762	0.94[ASN][1000 genomes]
rs29763	0.94[ASN][1000 genomes]
rs29764	0.94[ASN][1000 genomes]
rs323554	0.94[ASN][1000 genomes]
rs323556	1.00[ASN][1000 genomes]
rs323562	1.00[ASN][1000 genomes]
rs34236150	0.81[ASN][1000 genomes]
rs370346	0.81[ASN][1000 genomes]
rs396412	0.81[ASN][1000 genomes]
rs39794	0.94[ASN][1000 genomes]
rs408238	0.94[ASN][1000 genomes]
rs418494	1.00[ASN][1000 genomes]
rs424787	0.81[ASN][1000 genomes]
rs42515	0.94[ASN][1000 genomes]
rs433730	1.00[ASN][1000 genomes]
rs438604	0.81[ASN][1000 genomes]
rs441016	0.81[ASN][1000 genomes]
rs442869	0.94[ASN][1000 genomes]
rs445367	0.81[ASN][1000 genomes]
rs455374	0.81[ASN][1000 genomes]
rs457111	0.81[ASN][1000 genomes]
rs458884	0.81[ASN][1000 genomes]
rs459491	0.81[ASN][1000 genomes]
rs459794	0.81[ASN][1000 genomes]
rs460752	0.81[ASN][1000 genomes]
rs463040	0.81[ASN][1000 genomes]
rs463675	0.81[ASN][1000 genomes]
rs463905	0.81[ASN][1000 genomes]
rs464045	0.81[ASN][1000 genomes]
rs464191	0.81[ASN][1000 genomes]
rs465467	0.81[ASN][1000 genomes]
rs466960	0.94[ASN][1000 genomes]
rs467438	0.81[ASN][1000 genomes]
rs694217	0.94[ASN][1000 genomes]
rs7717507	0.94[ASN][1000 genomes]
rs837378	1.00[ASN][1000 genomes]
rs837381	1.00[ASN][1000 genomes]
rs837382	1.00[ASN][1000 genomes]
rs837384	1.00[ASN][1000 genomes]
rs837385	1.00[ASN][1000 genomes]
rs837389	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	esv3444044	chr5:40860244-40888483	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40872000-40876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:40872200-40872800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:40872200-40873400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:40872200-40874000	Enhancers	GM12878-XiMat	blood

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