Variant report

Variant	rs12532117
Chromosome Location	chr7:69999095-69999096
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	chr7:69997760..70000305-chr7:70252452..70255075,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12537482	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62455783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62455784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62455785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1034697	chr7:69913860-70004248	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv538928	chr7:69913860-70004248	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69983400-70002000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69983800-70009400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:69986600-70004200	Weak transcription	Ovary	ovary
4	chr7:69988800-70007600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:69992400-70006600	Weak transcription	Right Ventricle	heart
6	chr7:69995200-70007800	Weak transcription	Adipose Nuclei	Adipose
7	chr7:69995400-70012200	Weak transcription	Fetal Stomach	stomach
8	chr7:69995800-70002400	Weak transcription	Fetal Kidney	kidney
9	chr7:69995800-70007200	Weak transcription	HSMMtube	muscle
10	chr7:69996000-70004000	Weak transcription	Fetal Brain Female	brain
11	chr7:69996800-70017800	Weak transcription	Aorta	Aorta
12	chr7:69998200-69999200	Enhancers	Brain Substantia Nigra	brain
13	chr7:69998200-69999200	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:69998200-69999400	Enhancers	Fetal Muscle Leg	muscle
15	chr7:69999000-69999200	Enhancers	Fetal Brain Male	brain
16	chr7:69999000-70003800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:69999000-70003800	Weak transcription	Brain Anterior Caudate	brain
18	chr7:69999000-70004000	Weak transcription	Brain Angular Gyrus	brain
19	chr7:69999000-70004000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:69999000-70004000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:69999000-70007400	Weak transcription	Brain Hippocampus Middle	brain

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