Variant report

Variant	rs60563648
Chromosome Location	chr18:12524648-12524649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10048276	0.87[ASN][1000 genomes]
rs11660232	1.00[ASN][1000 genomes]
rs11662531	0.87[ASN][1000 genomes]
rs11663358	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11664013	0.87[ASN][1000 genomes]
rs11664068	0.87[ASN][1000 genomes]
rs11664219	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11664773	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11665415	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11665542	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16977227	0.81[AFR][1000 genomes]
rs1940973	1.00[ASN][1000 genomes]
rs2155699	1.00[ASN][1000 genomes]
rs2186906	1.00[ASN][1000 genomes]
rs28527375	1.00[ASN][1000 genomes]
rs28565322	1.00[ASN][1000 genomes]
rs28575715	1.00[ASN][1000 genomes]
rs28634564	0.87[ASN][1000 genomes]
rs28663159	1.00[ASN][1000 genomes]
rs28815517	1.00[ASN][1000 genomes]
rs28821540	1.00[ASN][1000 genomes]
rs4797693	0.81[AFR][1000 genomes]
rs56029848	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56870830	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57706356	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58638386	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61027502	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73403763	0.81[AFR][1000 genomes]
rs73405602	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407510	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407511	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407524	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946557	1.00[ASN][1000 genomes]
rs9959145	1.00[ASN][1000 genomes]
rs9959201	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9960706	0.87[ASN][1000 genomes]
rs9966118	1.00[ASN][1000 genomes]
rs9967026	1.00[ASN][1000 genomes]
rs9989546	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv2756075	chr18:12481377-12548970	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12478800-12551800	Weak transcription	Pancreas	Pancrea
2	chr18:12492200-12530400	Weak transcription	HepG2	liver
3	chr18:12492200-12532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr18:12492200-12548600	Weak transcription	Fetal Kidney	kidney
5	chr18:12493000-12541200	Weak transcription	NHEK	skin
6	chr18:12493200-12551800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:12505200-12536800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:12505400-12529400	Weak transcription	HMEC	breast
9	chr18:12507000-12526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:12507400-12535200	Weak transcription	Fetal Muscle Leg	muscle
11	chr18:12509400-12539200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:12511400-12551800	Weak transcription	Lung	lung
13	chr18:12516000-12553200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:12516400-12539000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr18:12516600-12529400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:12516600-12536600	Weak transcription	Right Ventricle	heart
17	chr18:12516600-12555000	Weak transcription	Aorta	Aorta
18	chr18:12516800-12534400	Weak transcription	HUVEC	blood vessel
19	chr18:12518400-12530200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:12518600-12531200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:12518600-12540000	Weak transcription	Adipose Nuclei	Adipose
22	chr18:12518600-12551800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:12519000-12532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:12520800-12525800	Weak transcription	Brain Substantia Nigra	brain
25	chr18:12520800-12528200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr18:12520800-12530400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr18:12520800-12532800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:12520800-12533000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr18:12520800-12543400	Weak transcription	Osteobl	bone
30	chr18:12520800-12551800	Weak transcription	Colon Smooth Muscle	Colon
31	chr18:12520800-12552000	Weak transcription	NHLF	lung
32	chr18:12521000-12525600	Weak transcription	HSMMtube	muscle
33	chr18:12521000-12527600	Weak transcription	Fetal Lung	lung
34	chr18:12521000-12529800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr18:12521000-12531200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr18:12521000-12533000	Weak transcription	Brain Angular Gyrus	brain
37	chr18:12521000-12533000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr18:12521000-12533200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr18:12521000-12533400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr18:12521000-12539200	Weak transcription	Fetal Stomach	stomach
41	chr18:12521000-12542000	Weak transcription	Ovary	ovary
42	chr18:12521000-12542200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:12521000-12552200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:12521200-12526200	Weak transcription	HSMM	muscle
45	chr18:12521200-12538600	Weak transcription	Brain Germinal Matrix	brain
46	chr18:12521400-12525600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr18:12521400-12525600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr18:12521600-12525400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:12521600-12525600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:12521600-12536400	Weak transcription	Left Ventricle	heart

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