Variant report

Variant	rs11720197
Chromosome Location	chr3:69407753-69407754
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11714469	0.81[ASN][1000 genomes]
rs13066443	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13067464	0.85[AMR][1000 genomes]
rs17350262	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1905474	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34458014	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34609588	0.83[ASN][1000 genomes]
rs34841224	0.83[ASN][1000 genomes]
rs35787059	0.85[AMR][1000 genomes]
rs4317105	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4855390	0.83[ASN][1000 genomes]
rs58610235	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs66514154	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7651462	0.83[AMR][1000 genomes]
rs767285	0.88[AMR][1000 genomes];0.83[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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