Variant report

Variant	rs72939718
Chromosome Location	chr3:69453135-69453136
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	chr3:69451514..69454199-chr3:69456879..69459994,4	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10510974	0.85[AFR][1000 genomes]
rs11916346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11917290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11919150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11921571	0.87[AFR][1000 genomes]
rs11923981	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11928996	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17005815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005829	0.88[AFR][1000 genomes]
rs17005831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005837	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17005844	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17005849	0.88[AFR][1000 genomes]
rs72937861	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72937877	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72937880	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72937883	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72937885	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72937887	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72937889	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72937895	0.85[AFR][1000 genomes]
rs72937901	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72937902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72939655	0.85[AFR][1000 genomes]
rs72939706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72939709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72939711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72939723	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2760780	chr3:69413876-69513947	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3426797	chr3:69433086-69777229	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69440000-69453800	Weak transcription	HMEC	breast
2	chr3:69447600-69453400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:69448000-69454000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:69448000-69454000	Weak transcription	Brain Substantia Nigra	brain
5	chr3:69448200-69454400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr3:69448600-69454400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr3:69450600-69461400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:69451400-69453800	Weak transcription	Fetal Brain Male	brain
9	chr3:69452200-69454000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr3:69452400-69453200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr3:69452400-69453800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr3:69452600-69453400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:69452600-69453600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:69452600-69453800	Weak transcription	Fetal Lung	lung
15	chr3:69452800-69453400	Enhancers	NHEK	skin
16	chr3:69452800-69454000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:69453000-69453800	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:69453000-69453800	Weak transcription	Fetal Brain Female	brain
19	chr3:69453000-69454600	Weak transcription	Gastric	stomach

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