Variant report

Variant	rs4682309
Chromosome Location	chr3:111488859-111488860
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111482636..111484637-chr3:111486491..111489104,2	MCF-7	breast:
2	chr3:111485439..111489234-chr3:111490972..111493959,3	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs13071304	0.87[EUR][1000 genomes]
rs13085147	0.83[EUR][1000 genomes]
rs13090883	0.83[EUR][1000 genomes]
rs17424287	0.83[EUR][1000 genomes]
rs3922703	0.85[EUR][1000 genomes]
rs3922705	0.85[EUR][1000 genomes]
rs4234402	0.88[AFR][1000 genomes]
rs4234403	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4234405	0.85[EUR][1000 genomes]
rs4308247	0.89[EUR][1000 genomes]
rs4349472	0.85[EUR][1000 genomes]
rs4373040	0.89[EUR][1000 genomes]
rs4405880	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4416359	0.85[EUR][1000 genomes]
rs4429600	0.89[EUR][1000 genomes]
rs4438630	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4546124	0.85[EUR][1000 genomes]
rs4642091	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4645114	0.85[EUR][1000 genomes]
rs4682058	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4682059	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4682060	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4682061	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4682062	0.88[AFR][1000 genomes]
rs4682304	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4682306	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4682307	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4682308	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4682311	0.85[EUR][1000 genomes]
rs4682315	0.85[EUR][1000 genomes]
rs6438005	0.89[EUR][1000 genomes]
rs66499316	0.85[EUR][1000 genomes]
rs6762439	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6763624	0.83[EUR][1000 genomes]
rs6768626	0.89[EUR][1000 genomes]
rs6777990	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6780845	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6786443	0.85[EUR][1000 genomes]
rs6804906	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6807045	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs68097220	0.89[EUR][1000 genomes]
rs7632963	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7633037	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7637178	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7640556	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7641533	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9288929	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9631450	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9850851	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9968124	0.83[EUR][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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111480200-111492000	Enhancers	Liver	Liver
2	chr3:111483200-111489200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:111485400-111489400	Enhancers	NHDF-Ad	bronchial
4	chr3:111486000-111489200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:111486000-111489400	Enhancers	Osteobl	bone
6	chr3:111486800-111490000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:111487200-111489000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:111487200-111489800	Enhancers	Fetal Heart	heart
9	chr3:111487200-111490000	Enhancers	Fetal Muscle Leg	muscle
10	chr3:111487400-111489200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr3:111487400-111489200	Enhancers	Fetal Stomach	stomach
12	chr3:111487400-111489400	Enhancers	Fetal Lung	lung
13	chr3:111487400-111489600	Enhancers	Adipose Nuclei	Adipose
14	chr3:111487600-111489000	Enhancers	Colon Smooth Muscle	Colon
15	chr3:111487600-111489000	Enhancers	Stomach Smooth Muscle	stomach
16	chr3:111487600-111489400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr3:111487600-111489600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:111487800-111493000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:111487800-111521000	Weak transcription	Gastric	stomach
20	chr3:111488000-111489200	Weak transcription	Aorta	Aorta
21	chr3:111488000-111489800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:111488000-111489800	Weak transcription	Pancreas	Pancrea
23	chr3:111488000-111493000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:111488000-111493400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:111488000-111501400	Weak transcription	Psoas Muscle	Psoas
26	chr3:111488400-111490000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:111488400-111496800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:111488600-111489200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:111488600-111489600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:111488600-111489600	Weak transcription	NHLF	lung
31	chr3:111488800-111489800	Weak transcription	Rectal Smooth Muscle	rectum

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