Variant report

Variant	rs57007178
Chromosome Location	chr18:7984071-7984072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2289685	0.91[ASN][1000 genomes]
rs58209325	1.00[ASN][1000 genomes]
rs59782869	1.00[ASN][1000 genomes]
rs73383811	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383815	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383816	1.00[ASN][1000 genomes]
rs73383819	1.00[ASN][1000 genomes]
rs73383830	1.00[ASN][1000 genomes]
rs73383831	1.00[ASN][1000 genomes]
rs73383833	1.00[ASN][1000 genomes]
rs73383834	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9955279	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9956344	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9962439	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9966320	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	esv3341451	chr18:7983577-7986125	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3387713	chr18:7983802-7986700	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3420598	chr18:7983977-7986825	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7959000-7987400	Weak transcription	Ovary	ovary
2	chr18:7964800-7984200	Weak transcription	Adipose Nuclei	Adipose
3	chr18:7966000-7987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:7966000-7989600	Weak transcription	Lung	lung
5	chr18:7976400-7986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:7977800-7985800	Weak transcription	Brain Anterior Caudate	brain
7	chr18:7977800-7986600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:7978200-7986200	Weak transcription	Brain Hippocampus Middle	brain
9	chr18:7978200-7986400	Weak transcription	Aorta	Aorta
10	chr18:7978200-7986400	Weak transcription	Right Atrium	heart
11	chr18:7980200-7985800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:7981200-7995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:7982600-7984400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:7982800-7984400	Enhancers	A549	lung
15	chr18:7982800-7986400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:7982800-7986600	Weak transcription	Osteobl	bone
17	chr18:7982800-7986800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr18:7983000-7986800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:7983200-7987000	Weak transcription	NH-A	brain
20	chr18:7983400-7984200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:7983400-7984400	Enhancers	Fetal Heart	heart
22	chr18:7983400-7986400	Weak transcription	Left Ventricle	heart
23	chr18:7983800-7984400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:7983800-7984400	Enhancers	Hela-S3	cervix
25	chr18:7984000-7984400	Enhancers	Brain Angular Gyrus	brain

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