Variant report

Variant	rs58429466
Chromosome Location	chr12:68304778-68304779
allele	A/G
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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56131707	1.00[EUR][1000 genomes]
rs56215754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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]
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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68302400-68305200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:68302400-68305200	Enhancers	Osteobl	bone
3	chr12:68302400-68305800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:68302400-68307800	Enhancers	Fetal Muscle Leg	muscle
5	chr12:68302600-68305400	Enhancers	NHLF	lung
6	chr12:68302600-68305600	Enhancers	HMEC	breast
7	chr12:68302600-68310000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:68302800-68305200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:68302800-68305400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:68302800-68305400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:68302800-68305600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:68303000-68305800	Enhancers	NHDF-Ad	bronchial
13	chr12:68303600-68304800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:68303600-68305400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:68303800-68304800	Enhancers	NH-A	brain
16	chr12:68304000-68304800	Flanking Active TSS	A549	lung
17	chr12:68304200-68305000	Flanking Active TSS	Fetal Heart	heart
18	chr12:68304400-68304800	Enhancers	Colon Smooth Muscle	Colon
19	chr12:68304400-68304800	Enhancers	Hela-S3	cervix
20	chr12:68304400-68305800	Enhancers	Fetal Brain Male	brain
21	chr12:68304600-68304800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:68304600-68304800	Enhancers	Brain Anterior Caudate	brain
23	chr12:68304600-68305000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:68304600-68305000	Enhancers	Brain Substantia Nigra	brain
25	chr12:68304600-68305000	Active TSS	Right Ventricle	heart
26	chr12:68304600-68305000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:68304600-68305000	Flanking Active TSS	NHEK	skin
28	chr12:68304600-68305200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr12:68304600-68305200	Active TSS	Stomach Smooth Muscle	stomach
30	chr12:68304600-68305200	Flanking Active TSS	HSMM	muscle
31	chr12:68304600-68305200	Flanking Active TSS	HSMMtube	muscle
32	chr12:68304600-68305600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:68304600-68305600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:68304600-68305600	Enhancers	Brain Germinal Matrix	brain
35	chr12:68304600-68305600	Enhancers	Brain Hippocampus Middle	brain
36	chr12:68304600-68305600	Enhancers	Rectal Smooth Muscle	rectum
37	chr12:68304600-68305600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr12:68304600-68305800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:68304600-68305800	Enhancers	Brain Cingulate Gyrus	brain

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