Variant report

Variant	rs7611647
Chromosome Location	chr3:69407870-69407871
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10865649	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11128126	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11707811	0.88[ASN][1000 genomes]
rs1564757	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17005647	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2007584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2170800	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35331889	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4290808	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4428187	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4855308	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4855389	0.85[ASN][1000 genomes]
rs56336456	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59563257	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62254082	0.86[ASN][1000 genomes]
rs6419766	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6549203	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6771772	0.83[ASN][1000 genomes]
rs6774274	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6776474	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs68061967	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7612526	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7617464	0.90[ASN][1000 genomes]
rs9310148	0.90[ASN][1000 genomes]
rs9310149	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9861135	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9868217	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9868990	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][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:24 , 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	chr3:69404200-69408200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:69405000-69408600	Weak transcription	HUVEC	blood vessel
8	chr3:69406200-69408000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:69406200-69408000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:69406600-69408000	Weak transcription	Fetal Thymus	thymus
11	chr3:69406600-69412800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:69406800-69409000	Weak transcription	Dnd41	blood
13	chr3:69406800-69413000	Weak transcription	Brain Substantia Nigra	brain
14	chr3:69406800-69413400	Weak transcription	Brain Angular Gyrus	brain
15	chr3:69407000-69408000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:69407000-69409600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:69407000-69412800	Weak transcription	HSMM	muscle
18	chr3:69407400-69408000	Weak transcription	HSMMtube	muscle
19	chr3:69407400-69409000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:69407400-69412800	Weak transcription	NHEK	skin
21	chr3:69407400-69413200	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:69407600-69408200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:69407600-69409600	Weak transcription	Fetal Lung	lung
24	chr3:69407600-69413000	Weak transcription	HMEC	breast

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