Variant report

Variant	rs73322745
Chromosome Location	chr12:68305269-68305270
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	chr12:68304416..68306533-chr12:68307789..68310636,2	MCF-7	breast:
2	chr12:68302716..68305733-chr12:68312803..68316283,4	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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56131707	1.00[EUR][1000 genomes]
rs56215754	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57329873	1.00[AMR][1000 genomes]
rs58019545	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58123354	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58233262	1.00[AMR][1000 genomes]
rs58429466	0.98[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59781510	1.00[EUR][1000 genomes]
rs61260239	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7294696	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7297341	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7303763	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303859	1.00[EUR][1000 genomes]
rs73322739	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73322755	0.95[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74099863	0.98[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68302400-68305800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:68302400-68307800	Enhancers	Fetal Muscle Leg	muscle
3	chr12:68302600-68305400	Enhancers	NHLF	lung
4	chr12:68302600-68305600	Enhancers	HMEC	breast
5	chr12:68302600-68310000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:68302800-68305400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:68302800-68305400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:68302800-68305600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:68303000-68305800	Enhancers	NHDF-Ad	bronchial
10	chr12:68303600-68305400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:68304400-68305800	Enhancers	Fetal Brain Male	brain
12	chr12:68304600-68305600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:68304600-68305600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:68304600-68305600	Enhancers	Brain Germinal Matrix	brain
15	chr12:68304600-68305600	Enhancers	Brain Hippocampus Middle	brain
16	chr12:68304600-68305600	Enhancers	Rectal Smooth Muscle	rectum
17	chr12:68304600-68305600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr12:68304600-68305800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:68304600-68305800	Enhancers	Brain Cingulate Gyrus	brain
20	chr12:68304800-68305400	Enhancers	Fetal Muscle Trunk	muscle
21	chr12:68304800-68305600	Active TSS	Psoas Muscle	Psoas
22	chr12:68304800-68305800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:68304800-68305800	Enhancers	Fetal Brain Female	brain
24	chr12:68304800-68305800	Enhancers	Fetal Lung	lung
25	chr12:68305000-68305400	Enhancers	Fetal Heart	heart
26	chr12:68305000-68305400	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:68305000-68305600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:68305000-68305800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr12:68305000-68305800	Weak transcription	Brain Substantia Nigra	brain
30	chr12:68305000-68305800	Enhancers	NHEK	skin
31	chr12:68305000-68306600	Weak transcription	Right Ventricle	heart
32	chr12:68305200-68305400	Flanking Active TSS	NH-A	brain
33	chr12:68305200-68305600	Active TSS	Brain Anterior Caudate	brain
34	chr12:68305200-68305600	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr12:68305200-68305800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:68305200-68305800	Enhancers	Colon Smooth Muscle	Colon
37	chr12:68305200-68306000	Enhancers	HSMM	muscle
38	chr12:68305200-68306000	Enhancers	HSMMtube	muscle

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