Variant report

Variant	rs12540330
Chromosome Location	chr7:80705618-80705619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80570369..80572451-chr7:80702280..80705942,3	MCF-7	breast:
2	chr7:80546160..80553330-chr7:80697243..80707851,28	MCF-7	breast:
3	chr7:80657944..80659650-chr7:80705154..80707062,2	K562	blood:
4	chr7:80545266..80555113-chr7:80701488..80708340,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10225640	0.89[EUR][1000 genomes]
rs10234328	0.86[EUR][1000 genomes]
rs10245648	0.92[EUR][1000 genomes]
rs10265745	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10267251	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10274106	0.90[EUR][1000 genomes]
rs10276120	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10277023	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10480510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10480511	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10480852	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10480853	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533994	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12538859	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540085	0.85[EUR][1000 genomes]
rs13221460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13240198	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17154740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881541	0.88[AFR][1000 genomes]
rs1919369	0.82[EUR][1000 genomes]
rs2247480	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2247579	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2697219	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2697221	0.93[EUR][1000 genomes]
rs2697224	0.92[EUR][1000 genomes]
rs2697225	0.92[EUR][1000 genomes]
rs2697227	0.85[EUR][1000 genomes]
rs28796047	0.85[EUR][1000 genomes]
rs35758038	0.86[EUR][1000 genomes]
rs3843546	0.85[EUR][1000 genomes]
rs3891957	0.86[EUR][1000 genomes]
rs3891958	0.86[EUR][1000 genomes]
rs3902760	0.82[EUR][1000 genomes]
rs4540349	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4573183	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4732107	0.86[EUR][1000 genomes]
rs4732109	0.85[EUR][1000 genomes]
rs58692795	0.86[EUR][1000 genomes]
rs62465327	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62467389	0.85[EUR][1000 genomes]
rs6951995	0.89[EUR][1000 genomes]
rs6955164	0.93[EUR][1000 genomes]
rs6957232	0.92[EUR][1000 genomes]
rs6959189	0.93[EUR][1000 genomes]
rs6969190	0.89[EUR][1000 genomes]
rs6971951	0.89[EUR][1000 genomes]
rs6973162	0.93[EUR][1000 genomes]
rs73384423	0.86[EUR][1000 genomes]
rs7786639	0.86[EUR][1000 genomes]
rs953190	0.86[EUR][1000 genomes]
rs953191	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv888551	chr7:80620397-80723062	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv888552	chr7:80683308-80755310	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv888553	chr7:80683308-80766407	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv888554	chr7:80695828-80755310	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv888555	chr7:80695828-80766407	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv888556	chr7:80695828-80797794	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80705200-80706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:80705400-80706000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:80705600-80706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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