Variant report

Variant	rs28688704
Chromosome Location	chr18:7888906-7888907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34345020	1.00[AMR][1000 genomes]
rs73379997	1.00[AMR][1000 genomes]
rs73380002	1.00[AMR][1000 genomes]
rs73381803	1.00[AMR][1000 genomes]
rs73381828	1.00[AMR][1000 genomes]
rs73381847	1.00[AMR][1000 genomes]
rs73381848	1.00[AMR][1000 genomes]
rs73383862	1.00[AMR][1000 genomes]
rs73383878	1.00[AMR][1000 genomes]
rs73383880	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7857800-7907200	Weak transcription	Thymus	Thymus
2	chr18:7873800-7896200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:7878600-7896600	Weak transcription	Aorta	Aorta
4	chr18:7878600-7901400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr18:7879400-7889800	Weak transcription	Colon Smooth Muscle	Colon
6	chr18:7880400-7889600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr18:7880600-7895400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:7880600-7896800	Weak transcription	Small Intestine	intestine
9	chr18:7881000-7896200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:7881200-7896400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:7881600-7889600	Weak transcription	Right Atrium	heart
12	chr18:7881800-7889400	Weak transcription	Lung	lung
13	chr18:7881800-7891000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:7885200-7889800	Weak transcription	Adipose Nuclei	Adipose
15	chr18:7885400-7891800	Weak transcription	Right Ventricle	heart
16	chr18:7886000-7895400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:7886400-7889600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:7886600-7889600	Weak transcription	Fetal Lung	lung
19	chr18:7886800-7889600	Weak transcription	Psoas Muscle	Psoas
20	chr18:7886800-7889600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr18:7886800-7914200	Weak transcription	HepG2	liver
22	chr18:7887000-7890000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr18:7887400-7896600	Weak transcription	Fetal Heart	heart
24	chr18:7887600-7889400	Weak transcription	Left Ventricle	heart
25	chr18:7887600-7889800	Weak transcription	Fetal Kidney	kidney
26	chr18:7887600-7896000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr18:7887600-7898400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:7888200-7889000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:7888200-7889800	Weak transcription	A549	lung
30	chr18:7888600-7889000	Strong transcription	Fetal Thymus	thymus

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