Variant report

Variant	rs1012950
Chromosome Location	chr7:80936706-80936707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80933949..80937160-chr7:80938346..80942682,5	MCF-7	breast:
2	chr7:80926765..80932056-chr7:80932265..80936862,6	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1012951	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1015885	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10215927	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10235727	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10259342	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10270613	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10486817	0.90[ASN][1000 genomes]
rs10954564	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17626401	0.99[ASN][1000 genomes]
rs2040901	0.87[EUR][1000 genomes]
rs2057776	0.88[ASN][1000 genomes]
rs2189565	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2367489	0.93[ASN][1000 genomes]
rs245433	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs245434	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs245436	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs245439	0.93[ASN][1000 genomes]
rs245440	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245441	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs245442	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2886992	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34813026	0.90[ASN][1000 genomes]
rs35177237	0.92[ASN][1000 genomes]
rs3948712	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4732237	0.94[ASN][1000 genomes]
rs62465492	0.82[ASN][1000 genomes]
rs6943816	0.99[ASN][1000 genomes]
rs6947842	0.99[ASN][1000 genomes]
rs6948864	0.99[ASN][1000 genomes]
rs6950573	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6962364	0.99[ASN][1000 genomes]
rs7794553	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs995353	0.97[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	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
2	nsv1029034	chr7:80838012-81137146	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831045	chr7:80841693-81012404	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv464608	chr7:80866153-80938045	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv607687	chr7:80866153-80938045	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv607688	chr7:80870379-80947517	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80929400-80938000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:80929800-80938000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:80930000-80937800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:80930000-80937800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:80930000-80937800	Weak transcription	NHLF	lung
6	chr7:80930000-80938200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:80930000-80961000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:80930200-80937800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:80930400-80938000	Weak transcription	A549	lung
10	chr7:80932800-80938000	Weak transcription	Fetal Intestine Large	intestine
11	chr7:80934200-80937800	Weak transcription	Stomach Mucosa	stomach

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