Variant report

Variant	rs73379914
Chromosome Location	chr18:7875306-7875307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57369000	1.00[AMR][1000 genomes]
rs602338	1.00[AMR][1000 genomes]
rs60825749	1.00[AMR][1000 genomes]
rs61612177	1.00[AMR][1000 genomes]
rs7235284	1.00[AMR][1000 genomes]
rs73379922	1.00[AMR][1000 genomes]
rs895386	1.00[AMR][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	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
3	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
4	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
5	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
6	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
7	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
8	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7857200-7877600	Weak transcription	Aorta	Aorta
2	chr18:7857800-7907200	Weak transcription	Thymus	Thymus
3	chr18:7869600-7877600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:7871400-7877800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:7871400-7879800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:7871600-7876400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:7871800-7877600	Weak transcription	Gastric	stomach
8	chr18:7871800-7879800	Weak transcription	Psoas Muscle	Psoas
9	chr18:7872800-7877600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr18:7872800-7877800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:7872800-7877800	Weak transcription	Pancreas	Pancrea
12	chr18:7872800-7878200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:7872800-7878400	Weak transcription	NH-A	brain
14	chr18:7873200-7876200	Weak transcription	Fetal Thymus	thymus
15	chr18:7873600-7875800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr18:7873600-7876200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:7873600-7876400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:7873600-7876400	Weak transcription	HepG2	liver
19	chr18:7873600-7877600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr18:7873600-7877600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr18:7873600-7877600	Weak transcription	HMEC	breast
22	chr18:7873600-7877800	Weak transcription	Adipose Nuclei	Adipose
23	chr18:7873600-7877800	Weak transcription	Right Ventricle	heart
24	chr18:7873600-7878400	Weak transcription	Fetal Heart	heart
25	chr18:7873800-7877800	Weak transcription	Right Atrium	heart
26	chr18:7873800-7878400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:7873800-7884000	Weak transcription	Left Ventricle	heart
28	chr18:7873800-7896200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:7874000-7878400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:7874200-7876000	Weak transcription	Hela-S3	cervix
31	chr18:7874200-7878400	Weak transcription	Colon Smooth Muscle	Colon
32	chr18:7874800-7875800	Weak transcription	A549	lung

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