Variant report

Variant	rs73387591
Chromosome Location	chr18:7663041-7663042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11876323	1.00[ASN][1000 genomes]
rs11876394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13313691	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13381320	0.96[ASN][1000 genomes]
rs16952317	0.96[ASN][1000 genomes]
rs28375830	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28507304	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4798572	0.80[EUR][1000 genomes]
rs55669819	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55793264	0.85[ASN][1000 genomes]
rs55983357	0.96[ASN][1000 genomes]
rs56079905	0.85[ASN][1000 genomes]
rs56165536	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57109716	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57208702	0.81[ASN][1000 genomes]
rs58291169	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58361187	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7235826	0.97[EUR][1000 genomes]
rs73387558	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8089761	0.97[EUR][1000 genomes]
rs9946337	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9954075	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7646600-7663200	Weak transcription	Pancreas	Pancrea
2	chr18:7657000-7668400	Weak transcription	Gastric	stomach
3	chr18:7657400-7664000	Weak transcription	Lung	lung
4	chr18:7657400-7680600	Weak transcription	Ovary	ovary
5	chr18:7657800-7664200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr18:7657800-7668400	Weak transcription	Spleen	Spleen
7	chr18:7657800-7669200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr18:7658000-7669200	Weak transcription	Fetal Stomach	stomach
9	chr18:7659000-7663600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:7659000-7668200	Weak transcription	A549	lung
11	chr18:7659400-7663200	Weak transcription	Fetal Heart	heart
12	chr18:7659600-7668200	Weak transcription	HepG2	liver
13	chr18:7661000-7664200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:7661000-7664200	Enhancers	Adipose Nuclei	Adipose
15	chr18:7661400-7663400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:7661600-7664000	Weak transcription	Fetal Muscle Leg	muscle
17	chr18:7661600-7669200	Weak transcription	Aorta	Aorta
18	chr18:7662000-7664200	Weak transcription	Psoas Muscle	Psoas
19	chr18:7662400-7663400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr18:7662800-7664600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr18:7662800-7664800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:7663000-7663400	Enhancers	Brain Hippocampus Middle	brain
23	chr18:7663000-7663400	ZNF genes & repeats	Fetal Lung	lung
24	chr18:7663000-7663600	Enhancers	Brain Anterior Caudate	brain
25	chr18:7663000-7663800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:7663000-7663800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr18:7663000-7663800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr18:7663000-7664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:7663000-7664400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr18:7663000-7664600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:7663000-7664600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr18:7663000-7664600	Enhancers	Right Atrium	heart
33	chr18:7663000-7664600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr18:7663000-7664800	Enhancers	Left Ventricle	heart
35	chr18:7663000-7665000	Enhancers	Right Ventricle	heart

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