Variant report

Variant	rs9867072
Chromosome Location	chr3:69402785-69402786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11128125	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1564758	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1976064	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2003264	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2005546	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2008239	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34397489	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6549200	0.87[ASN][1000 genomes]
rs6549204	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6763080	0.98[ASN][1000 genomes]
rs6774290	0.98[ASN][1000 genomes]
rs6781841	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6802833	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6808107	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7610748	0.90[ASN][1000 genomes]
rs7615137	0.85[ASN][1000 genomes]
rs7640281	0.94[ASN][1000 genomes]
rs9820308	0.88[ASN][1000 genomes]
rs9820322	0.90[ASN][1000 genomes]
rs9869925	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9876410	0.86[ASN][1000 genomes]
rs9882259	0.83[AFR][1000 genomes];0.91[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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69372200-69403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:69394000-69403000	Weak transcription	HSMM	muscle
3	chr3:69397800-69406000	Weak transcription	HSMMtube	muscle
4	chr3:69400200-69403400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:69400200-69405400	Enhancers	Brain Substantia Nigra	brain
6	chr3:69400400-69403400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:69400400-69403400	Active TSS	Right Atrium	heart
8	chr3:69400400-69403400	Flanking Active TSS	Dnd41	blood
9	chr3:69400600-69402800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:69400600-69412800	Weak transcription	Esophagus	oesophagus
11	chr3:69401000-69403200	Active TSS	Adipose Nuclei	Adipose
12	chr3:69401000-69403800	Weak transcription	NHEK	skin
13	chr3:69401200-69402800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr3:69401200-69403000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:69401400-69403000	Enhancers	Primary B cells from peripheral blood	blood
16	chr3:69401400-69403000	Active TSS	HUVEC	blood vessel
17	chr3:69401600-69402800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr3:69401800-69402800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr3:69401800-69402800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr3:69401800-69402800	Active TSS	Fetal Muscle Leg	muscle
21	chr3:69401800-69402800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr3:69401800-69403200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr3:69401800-69403200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr3:69401800-69404000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:69402000-69402800	Active TSS	Liver	Liver
26	chr3:69402000-69402800	Active TSS	Fetal Muscle Trunk	muscle
27	chr3:69402000-69402800	Active TSS	Psoas Muscle	Psoas
28	chr3:69402000-69403000	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr3:69402000-69403000	Active TSS	Left Ventricle	heart
30	chr3:69402000-69403000	Active TSS	Lung	lung
31	chr3:69402000-69403000	Flanking Active TSS	Thymus	Thymus
32	chr3:69402200-69402800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr3:69402200-69403000	Active TSS	GM12878-XiMat	blood
34	chr3:69402200-69403200	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr3:69402200-69419000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:69402400-69402800	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr3:69402400-69402800	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr3:69402400-69402800	Active TSS	Brain Cingulate Gyrus	brain
39	chr3:69402400-69402800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr3:69402400-69402800	Active TSS	Stomach Smooth Muscle	stomach
41	chr3:69402400-69403000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:69402400-69403000	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr3:69402400-69403000	Active TSS	Fetal Thymus	thymus
44	chr3:69402600-69402800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr3:69402600-69402800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr3:69402600-69402800	Flanking Active TSS	Aorta	Aorta
47	chr3:69402600-69402800	Flanking Active TSS	Fetal Lung	lung
48	chr3:69402600-69402800	Enhancers	Hela-S3	cervix
49	chr3:69402600-69403000	Active TSS	Primary monocytes fromperipheralblood	blood
50	chr3:69402600-69403000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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