Variant report

Variant	rs59694256
Chromosome Location	chr3:180134124-180134125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55677114	0.91[AFR][1000 genomes]
rs56125422	1.00[AFR][1000 genomes]
rs60739499	0.91[AFR][1000 genomes]
rs73883836	1.00[AFR][1000 genomes]
rs73883840	1.00[AFR][1000 genomes]
rs73883842	1.00[AFR][1000 genomes]
rs73883852	0.81[AFR][1000 genomes]
rs73883853	1.00[AFR][1000 genomes]
rs73883855	1.00[AFR][1000 genomes]
rs73883856	1.00[AFR][1000 genomes]
rs73883858	1.00[AFR][1000 genomes]
rs73883859	1.00[AFR][1000 genomes]
rs73883860	1.00[AFR][1000 genomes]
rs73883861	1.00[AFR][1000 genomes]
rs73883863	1.00[AFR][1000 genomes]
rs73883864	1.00[AFR][1000 genomes]
rs73883865	1.00[AFR][1000 genomes]
rs73883866	0.91[AFR][1000 genomes]
rs73883867	0.91[AFR][1000 genomes]
rs73883870	0.91[AFR][1000 genomes]
rs73883871	0.91[AFR][1000 genomes]
rs73883874	0.91[AFR][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	nsv1012271	chr3:179806875-180234871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv997388	chr3:179899279-180172349	Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv536817	chr3:179899279-180172349	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180131400-180136000	Enhancers	HMEC	breast
2	chr3:180132800-180135800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:180133200-180135200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:180133400-180134600	Enhancers	NHEK	skin
5	chr3:180133400-180135000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:180133400-180135400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:180133600-180134400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:180133600-180134400	Enhancers	Brain Germinal Matrix	brain
9	chr3:180133600-180134400	Enhancers	HSMMtube	muscle
10	chr3:180133600-180134800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:180133600-180134800	Enhancers	HepG2	liver
12	chr3:180133600-180135200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:180133600-180135200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:180133800-180134200	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr3:180133800-180134400	Active TSS	Brain Angular Gyrus	brain
16	chr3:180133800-180134800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:180133800-180134800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:180133800-180134800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr3:180133800-180134800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:180133800-180135800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:180134000-180134400	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr3:180134000-180134600	Weak transcription	NHLF	lung
23	chr3:180134000-180135600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:180134000-180138000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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