Variant report

Variant	rs57109716
Chromosome Location	chr18:7664305-7664306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11876323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876394	1.00[ASN][1000 genomes]
rs13313691	1.00[ASN][1000 genomes]
rs13381320	0.96[ASN][1000 genomes]
rs16952317	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28375830	0.85[ASN][1000 genomes]
rs28507304	0.85[ASN][1000 genomes]
rs55669819	0.85[ASN][1000 genomes]
rs55793264	0.85[ASN][1000 genomes]
rs55983357	0.96[ASN][1000 genomes]
rs56079905	0.85[ASN][1000 genomes]
rs56165536	0.85[ASN][1000 genomes]
rs57208702	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58291169	0.96[ASN][1000 genomes]
rs58361187	1.00[ASN][1000 genomes]
rs73387558	0.96[ASN][1000 genomes]
rs73387584	1.00[EUR][1000 genomes]
rs73387591	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9946337	0.96[ASN][1000 genomes]
rs9954075	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7657000-7668400	Weak transcription	Gastric	stomach
2	chr18:7657400-7680600	Weak transcription	Ovary	ovary
3	chr18:7657800-7668400	Weak transcription	Spleen	Spleen
4	chr18:7657800-7669200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr18:7658000-7669200	Weak transcription	Fetal Stomach	stomach
6	chr18:7659000-7668200	Weak transcription	A549	lung
7	chr18:7659600-7668200	Weak transcription	HepG2	liver
8	chr18:7661600-7669200	Weak transcription	Aorta	Aorta
9	chr18:7662800-7664600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:7662800-7664800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:7663000-7664400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:7663000-7664600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:7663000-7664600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr18:7663000-7664600	Enhancers	Right Atrium	heart
15	chr18:7663000-7664600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr18:7663000-7664800	Enhancers	Left Ventricle	heart
17	chr18:7663000-7665000	Enhancers	Right Ventricle	heart
18	chr18:7663200-7664600	Enhancers	HMEC	breast
19	chr18:7663400-7665200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:7663600-7666200	Weak transcription	Brain Anterior Caudate	brain
21	chr18:7663800-7664800	Enhancers	Fetal Heart	heart
22	chr18:7663800-7668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr18:7663800-7668400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:7664000-7664400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr18:7664000-7664600	Enhancers	Fetal Muscle Leg	muscle
26	chr18:7664000-7664600	Enhancers	Lung	lung
27	chr18:7664000-7668400	Weak transcription	Pancreas	Pancrea
28	chr18:7664200-7664400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr18:7664200-7664800	Enhancers	Psoas Muscle	Psoas
30	chr18:7664200-7665000	Enhancers	Fetal Lung	lung
31	chr18:7664200-7668200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:7664200-7668400	Weak transcription	Adipose Nuclei	Adipose
33	chr18:7664200-7676400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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