Variant report

Variant	rs28478569
Chromosome Location	chr18:7817297-7817298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28611041	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9948485	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9951957	0.93[AFR][1000 genomes];1.00[AMR][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	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
9	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1062454	chr18:7784432-7838015	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7810200-7817600	Weak transcription	Ovary	ovary
2	chr18:7810200-7822400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:7810200-7824200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:7813200-7822600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:7814600-7821400	Weak transcription	Fetal Heart	heart
6	chr18:7815400-7817800	Weak transcription	Right Ventricle	heart
7	chr18:7815400-7819400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:7815400-7820000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:7815400-7820600	Weak transcription	Psoas Muscle	Psoas
10	chr18:7815400-7821800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:7815400-7822600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr18:7815400-7843800	Weak transcription	A549	lung
13	chr18:7815600-7817800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:7815600-7821600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr18:7815600-7822600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:7815600-7824800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:7815600-7826400	Weak transcription	HepG2	liver
18	chr18:7815800-7819200	Weak transcription	Fetal Stomach	stomach
19	chr18:7816000-7817600	Weak transcription	Fetal Lung	lung
20	chr18:7816000-7819200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:7816000-7822600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:7816200-7818000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr18:7816400-7822400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr18:7816800-7817600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:7817000-7818600	Enhancers	Left Ventricle	heart
26	chr18:7817200-7817800	Weak transcription	Fetal Thymus	thymus
27	chr18:7817200-7818400	Enhancers	Colon Smooth Muscle	Colon
28	chr18:7817200-7818800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:7817200-7822800	Weak transcription	H9 Cell Line	embryonic stem cell

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