Variant report

Variant	rs2314988
Chromosome Location	chr3:69406341-69406342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11128124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11920822	1.00[AMR][1000 genomes]
rs11925020	1.00[AMR][1000 genomes]
rs1483894	1.00[AMR][1000 genomes]
rs1809486	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1843047	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2007561	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2128973	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34772648	1.00[AMR][1000 genomes]
rs4855306	1.00[AMR][1000 genomes]
rs4855392	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4855393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6549199	1.00[AMR][1000 genomes]
rs6549212	1.00[AMR][1000 genomes]
rs6769290	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6783290	1.00[AMR][1000 genomes]
rs6794191	1.00[AMR][1000 genomes]
rs72937850	1.00[AMR][1000 genomes]
rs7645568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7649640	1.00[AMR][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	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1800315	chr3:69374729-69414587	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv520818	chr3:69401248-69421495	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69400600-69412800	Weak transcription	Esophagus	oesophagus
2	chr3:69402200-69419000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:69402800-69413000	Weak transcription	Aorta	Aorta
4	chr3:69403000-69414800	Weak transcription	Lung	lung
5	chr3:69403800-69406600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr3:69403800-69413000	Weak transcription	Thymus	Thymus
7	chr3:69404200-69406400	Weak transcription	Brain Angular Gyrus	brain
8	chr3:69404200-69408200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:69404400-69406400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:69404600-69407000	Enhancers	Brain Cingulate Gyrus	brain
11	chr3:69405000-69408600	Weak transcription	HUVEC	blood vessel
12	chr3:69405800-69406400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:69405800-69406800	Enhancers	Brain Substantia Nigra	brain
14	chr3:69406000-69406400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:69406000-69406600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr3:69406000-69406800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:69406000-69407000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:69406000-69407200	Enhancers	Hela-S3	cervix
19	chr3:69406000-69407200	Genic enhancers	NHEK	skin
20	chr3:69406000-69407400	Enhancers	HSMMtube	muscle
21	chr3:69406000-69407600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:69406000-69407600	Enhancers	HMEC	breast
23	chr3:69406200-69406400	Enhancers	HSMM	muscle
24	chr3:69406200-69406600	Enhancers	Fetal Thymus	thymus
25	chr3:69406200-69406600	Enhancers	Left Ventricle	heart
26	chr3:69406200-69406600	Enhancers	Right Atrium	heart
27	chr3:69406200-69406800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr3:69406200-69406800	Enhancers	Dnd41	blood
29	chr3:69406200-69407200	Enhancers	Brain Anterior Caudate	brain
30	chr3:69406200-69407400	Enhancers	Brain Hippocampus Middle	brain
31	chr3:69406200-69407600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:69406200-69407600	Enhancers	Fetal Lung	lung
33	chr3:69406200-69408000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr3:69406200-69408000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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