Variant report

Variant	rs17005691
Chromosome Location	chr3:69414260-69414261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13320477	0.88[CHB][hapmap];0.82[EUR][1000 genomes]
rs17005675	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17005685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17005687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17005689	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17005694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17005696	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17005699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17005712	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17005713	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350402	0.93[CHB][hapmap]
rs2314987	0.85[CEU][hapmap];0.88[CHB][hapmap];0.89[AMR][1000 genomes]
rs2872808	0.85[CEU][hapmap];0.88[CHB][hapmap];0.87[AMR][1000 genomes]
rs4241387	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4855394	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5026329	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56653941	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56682655	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57343519	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58937767	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59683429	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60969945	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940765	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940769	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940771	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940775	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940779	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940783	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940785	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881031	0.85[CEU][hapmap];0.87[CHB][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs964553	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv2760780	chr3:69413876-69513947	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69402200-69419000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:69403000-69414800	Weak transcription	Lung	lung
3	chr3:69410200-69417400	Weak transcription	Fetal Lung	lung
4	chr3:69412200-69415400	Enhancers	Dnd41	blood
5	chr3:69412800-69414600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:69412800-69415000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:69412800-69415200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:69413000-69414400	Enhancers	Primary hematopoietic stem cells	blood
9	chr3:69413000-69414600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:69413000-69414600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr3:69413000-69414800	Enhancers	GM12878-XiMat	blood
12	chr3:69413000-69414800	Enhancers	HMEC	breast
13	chr3:69413000-69415000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:69413000-69415000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:69413600-69415200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:69413600-69417200	Weak transcription	Aorta	Aorta
17	chr3:69413600-69417200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:69413600-69417200	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:69413600-69417200	Weak transcription	Fetal Thymus	thymus
20	chr3:69413600-69417400	Weak transcription	Brain Anterior Caudate	brain
21	chr3:69413600-69417400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:69413600-69417400	Weak transcription	Brain Substantia Nigra	brain
23	chr3:69413600-69417600	Weak transcription	Esophagus	oesophagus
24	chr3:69413600-69418000	Weak transcription	HSMMtube	muscle
25	chr3:69413600-69419000	Weak transcription	NHDF-Ad	bronchial
26	chr3:69413800-69414400	Enhancers	HSMM	muscle
27	chr3:69413800-69414600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:69413800-69417000	Weak transcription	HUVEC	blood vessel
29	chr3:69413800-69417400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:69413800-69417600	Weak transcription	Placenta	Placenta
31	chr3:69413800-69417600	Weak transcription	Right Atrium	heart
32	chr3:69413800-69419000	Weak transcription	Brain Angular Gyrus	brain
33	chr3:69413800-69419400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:69414000-69414800	Enhancers	NHEK	skin
35	chr3:69414000-69415800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:69414000-69417200	Weak transcription	Thymus	Thymus
37	chr3:69414000-69417400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr3:69414000-69417400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr3:69414000-69418400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:69414000-69419000	Weak transcription	Osteobl	bone
41	chr3:69414200-69418000	Weak transcription	Muscle Satellite Cultured Cells	--

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