Variant report

Variant	rs7651462
Chromosome Location	chr3:69378594-69378595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11714469	0.86[AMR][1000 genomes]
rs11720197	0.83[AMR][1000 genomes]
rs13061745	0.86[EUR][1000 genomes]
rs13066342	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13066443	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13067464	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34609588	0.85[AMR][1000 genomes]
rs34841224	0.90[AMR][1000 genomes]
rs35787059	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4855385	0.81[EUR][1000 genomes]
rs4855386	0.81[EUR][1000 genomes]
rs4855390	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66514154	0.96[AMR][1000 genomes];0.97[EUR][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	nsv876935	chr3:69307942-69401248	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69360600-69382200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:69370200-69384000	Weak transcription	Left Ventricle	heart
3	chr3:69370400-69379200	Weak transcription	Spleen	Spleen
4	chr3:69371800-69380000	Weak transcription	Fetal Heart	heart
5	chr3:69372200-69403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:69372400-69380000	Weak transcription	NHEK	skin
7	chr3:69373800-69380400	Weak transcription	Placenta	Placenta
8	chr3:69374600-69380400	Weak transcription	Lung	lung
9	chr3:69374600-69383200	Weak transcription	Right Atrium	heart
10	chr3:69374800-69388400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr3:69375000-69380000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:69375000-69384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:69375800-69378600	Enhancers	HUVEC	blood vessel
14	chr3:69376000-69380000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:69376400-69378600	Enhancers	HSMM	muscle
16	chr3:69376400-69388600	Weak transcription	Aorta	Aorta
17	chr3:69376600-69378600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:69376600-69379600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:69376600-69380000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr3:69376600-69380800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr3:69376600-69383200	Weak transcription	Adipose Nuclei	Adipose
22	chr3:69376800-69388400	Weak transcription	HSMMtube	muscle
23	chr3:69377000-69381200	Enhancers	Primary hematopoietic stem cells	blood
24	chr3:69377400-69383800	Weak transcription	Brain Angular Gyrus	brain
25	chr3:69377600-69380000	Weak transcription	Fetal Lung	lung
26	chr3:69377800-69378800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:69377800-69381400	Weak transcription	Fetal Brain Female	brain
28	chr3:69377800-69382400	Weak transcription	Brain Anterior Caudate	brain
29	chr3:69377800-69382600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:69378000-69379000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:69378000-69380000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:69378200-69380000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:69378200-69381400	Weak transcription	Brain Hippocampus Middle	brain
34	chr3:69378200-69383800	Weak transcription	Right Ventricle	heart
35	chr3:69378400-69379800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr3:69378400-69379800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr3:69378400-69379800	Weak transcription	Osteobl	bone
38	chr3:69378400-69380000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:69378400-69380000	Weak transcription	Fetal Thymus	thymus
40	chr3:69378400-69380200	Weak transcription	Brain Substantia Nigra	brain
41	chr3:69378400-69380400	Enhancers	Dnd41	blood
42	chr3:69378400-69381600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:69378400-69390600	Weak transcription	Thymus	Thymus
44	chr3:69378400-69400600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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