Variant report

Variant	rs61470666
Chromosome Location	chr18:12534134-12534135
allele	G/T
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:28)

rs_ID	r²[population]
rs11874912	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875046	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875203	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875489	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875516	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876168	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877349	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185471	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155734	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45460897	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55857671	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914043	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56089701	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56132337	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152190	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56271712	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56297932	1.00[ASN][1000 genomes]
rs56359953	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56371539	1.00[ASN][1000 genomes]
rs56382499	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56392324	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56792052	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56909423	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58011896	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7226376	0.94[EUR][1000 genomes]
rs7243917	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244345	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646473	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12478800-12551800	Weak transcription	Pancreas	Pancrea
2	chr18:12492200-12548600	Weak transcription	Fetal Kidney	kidney
3	chr18:12493000-12541200	Weak transcription	NHEK	skin
4	chr18:12493200-12551800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr18:12505200-12536800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:12507400-12535200	Weak transcription	Fetal Muscle Leg	muscle
7	chr18:12509400-12539200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr18:12511400-12551800	Weak transcription	Lung	lung
9	chr18:12516000-12553200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:12516400-12539000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr18:12516600-12536600	Weak transcription	Right Ventricle	heart
12	chr18:12516600-12555000	Weak transcription	Aorta	Aorta
13	chr18:12516800-12534400	Weak transcription	HUVEC	blood vessel
14	chr18:12518600-12540000	Weak transcription	Adipose Nuclei	Adipose
15	chr18:12518600-12551800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:12520800-12543400	Weak transcription	Osteobl	bone
17	chr18:12520800-12551800	Weak transcription	Colon Smooth Muscle	Colon
18	chr18:12520800-12552000	Weak transcription	NHLF	lung
19	chr18:12521000-12539200	Weak transcription	Fetal Stomach	stomach
20	chr18:12521000-12542000	Weak transcription	Ovary	ovary
21	chr18:12521000-12542200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:12521000-12552200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:12521200-12538600	Weak transcription	Brain Germinal Matrix	brain
24	chr18:12521600-12536400	Weak transcription	Left Ventricle	heart
25	chr18:12525600-12540800	Weak transcription	Gastric	stomach
26	chr18:12526400-12534200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:12526400-12534600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr18:12526400-12534600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:12526400-12541400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr18:12530600-12536000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:12530600-12540000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr18:12530600-12541000	Weak transcription	HMEC	breast
33	chr18:12530600-12551600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:12531600-12535200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr18:12531600-12537000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr18:12532200-12540800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr18:12533200-12534200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:12533200-12540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr18:12533200-12542400	Weak transcription	Fetal Heart	heart
40	chr18:12533200-12551800	Weak transcription	HSMMtube	muscle
41	chr18:12533400-12535200	Strong transcription	HSMM	muscle
42	chr18:12533600-12534400	Weak transcription	Fetal Brain Female	brain
43	chr18:12533600-12543200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr18:12533800-12536000	Weak transcription	Brain Angular Gyrus	brain
45	chr18:12534000-12534200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr18:12534000-12534600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr18:12534000-12535200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr18:12534000-12551800	Weak transcription	Fetal Brain Male	brain

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