Variant report

Variant	rs2007561
Chromosome Location	chr3:69409237-69409238
allele	G/T
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]
rs2128973	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2314988	1.00[YRI][hapmap];1.00[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:26 , 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	chr3:69403800-69413000	Weak transcription	Thymus	Thymus
6	chr3:69406600-69412800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:69406800-69413000	Weak transcription	Brain Substantia Nigra	brain
8	chr3:69406800-69413400	Weak transcription	Brain Angular Gyrus	brain
9	chr3:69407000-69409600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:69407000-69412800	Weak transcription	HSMM	muscle
11	chr3:69407400-69412800	Weak transcription	NHEK	skin
12	chr3:69407400-69413200	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:69407600-69409600	Weak transcription	Fetal Lung	lung
14	chr3:69407600-69413000	Weak transcription	HMEC	breast
15	chr3:69408200-69409800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:69408400-69409400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:69408400-69412800	Weak transcription	Fetal Thymus	thymus
18	chr3:69408600-69410000	Enhancers	HUVEC	blood vessel
19	chr3:69408600-69410800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:69408600-69413000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:69408600-69413000	Weak transcription	HSMMtube	muscle
22	chr3:69408800-69412800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:69409000-69409800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:69409000-69410000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:69409000-69411200	Enhancers	Dnd41	blood
26	chr3:69409200-69409800	Enhancers	HUES64 Cell Line	embryonic stem cell

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