Variant report

Variant	rs56215754
Chromosome Location	chr12:68306668-68306669
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68306230..68308010-chr12:68310665..68313391,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs28496265	1.00[EUR][1000 genomes]
rs2906847	1.00[EUR][1000 genomes]
rs55916709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56131707	1.00[EUR][1000 genomes]
rs57329873	1.00[AMR][1000 genomes]
rs58019545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58123354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58233262	1.00[AMR][1000 genomes]
rs58429466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58627876	1.00[EUR][1000 genomes]
rs58918170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58973781	1.00[EUR][1000 genomes]
rs59155952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59781510	1.00[EUR][1000 genomes]
rs61260239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7294696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7297341	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7303763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303859	1.00[EUR][1000 genomes]
rs73322739	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73322745	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73322755	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324839	1.00[EUR][1000 genomes]
rs73324848	1.00[EUR][1000 genomes]
rs73324851	1.00[EUR][1000 genomes]
rs73324853	1.00[EUR][1000 genomes]
rs73324861	1.00[EUR][1000 genomes]
rs74099862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74099863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7955966	1.00[EUR][1000 genomes]
rs7962113	1.00[EUR][1000 genomes]
rs7964651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977996	1.00[EUR][1000 genomes]
rs7980788	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68302400-68307800	Enhancers	Fetal Muscle Leg	muscle
2	chr12:68302600-68310000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:68305400-68310000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:68305400-68310200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:68305600-68310000	Weak transcription	Psoas Muscle	Psoas
6	chr12:68305600-68312400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:68305600-68312400	Weak transcription	HMEC	breast
8	chr12:68305600-68313000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:68305800-68307000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr12:68305800-68307600	Enhancers	Fetal Heart	heart
11	chr12:68305800-68307600	Weak transcription	NHEK	skin
12	chr12:68305800-68309800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:68305800-68311400	Weak transcription	NHDF-Ad	bronchial
14	chr12:68305800-68312600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:68306000-68310200	Weak transcription	HSMM	muscle
16	chr12:68306600-68306800	Enhancers	Right Ventricle	heart
17	chr12:68306600-68307400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:68306600-68310200	Weak transcription	HSMMtube	muscle

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