Variant report

Variant	rs17047275
Chromosome Location	chr2:56098569-56098570
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17047273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17047297	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2903836	1.00[AMR][1000 genomes]
rs6715632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6715773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6747198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6752961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72922491	1.00[EUR][1000 genomes]
rs72922494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72924519	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7560742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 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	chr2:56089200-56112200	Weak transcription	Pancreas	Pancrea
2	chr2:56090000-56107600	Weak transcription	Fetal Stomach	stomach
3	chr2:56090200-56107400	Weak transcription	Fetal Lung	lung
4	chr2:56091200-56102600	Weak transcription	Hela-S3	cervix
5	chr2:56092000-56099200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:56092400-56100000	Genic enhancers	Osteobl	bone
7	chr2:56092400-56111600	Genic enhancers	HUVEC	blood vessel
8	chr2:56092600-56102600	Strong transcription	HSMM	muscle
9	chr2:56092800-56107800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:56092800-56112400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:56092800-56114400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:56093000-56098600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:56093800-56109000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:56094800-56116200	Weak transcription	Spleen	Spleen
15	chr2:56095000-56102600	Weak transcription	A549	lung
16	chr2:56095600-56109600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:56096000-56106000	Weak transcription	Ovary	ovary
18	chr2:56097000-56099000	Strong transcription	HSMMtube	muscle
19	chr2:56097000-56108800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:56097400-56098600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:56097400-56098600	Weak transcription	Right Atrium	heart
22	chr2:56097400-56098600	Strong transcription	NH-A	brain
23	chr2:56097400-56099000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:56097400-56099000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:56097400-56102000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:56097400-56102400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:56097600-56098800	Strong transcription	Aorta	Aorta
28	chr2:56097600-56099000	Strong transcription	NHLF	lung
29	chr2:56097600-56099200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:56097600-56102800	Strong transcription	Adipose Nuclei	Adipose
31	chr2:56097800-56099000	Strong transcription	NHEK	skin
32	chr2:56098000-56098600	Weak transcription	Placenta	Placenta
33	chr2:56098000-56098600	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr2:56098000-56099600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:56098000-56107600	Weak transcription	Lung	lung
36	chr2:56098200-56098600	Weak transcription	NHDF-Ad	bronchial
37	chr2:56098200-56099600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr2:56098200-56102600	Weak transcription	HMEC	breast
39	chr2:56098400-56099200	Enhancers	Primary B cells from peripheral blood	blood

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