Variant report

Variant	rs28674664
Chromosome Location	chr18:7685380-7685381
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7684763..7686884-chr18:7689927..7692256,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28465512	1.00[AMR][1000 genomes]
rs28524496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28570370	1.00[AMR][1000 genomes]
rs9953627	1.00[AMR][1000 genomes]
rs9955080	1.00[AMR][1000 genomes]
rs9957169	1.00[AMR][1000 genomes]
rs9958605	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9958957	1.00[AMR][1000 genomes]
rs9959088	1.00[AMR][1000 genomes]
rs9959214	1.00[AMR][1000 genomes]
rs9962615	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9963088	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv909358	chr18:7685307-7693309	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7669600-7688400	Weak transcription	Aorta	Aorta
2	chr18:7680400-7685800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr18:7681600-7686000	Weak transcription	Small Intestine	intestine
4	chr18:7683200-7696600	Weak transcription	Fetal Lung	lung
5	chr18:7683400-7686000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:7683400-7686000	Enhancers	Fetal Heart	heart
7	chr18:7683400-7686200	Enhancers	HMEC	breast
8	chr18:7683600-7686200	Enhancers	NHEK	skin
9	chr18:7683800-7686200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:7684200-7689200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:7684200-7693800	Weak transcription	Lung	lung
12	chr18:7684200-7696600	Weak transcription	Right Atrium	heart
13	chr18:7684200-7712000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:7684400-7685800	Enhancers	HSMMtube	muscle
15	chr18:7684400-7687000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:7684800-7685400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr18:7684800-7685400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr18:7684800-7685600	Enhancers	Left Ventricle	heart
19	chr18:7684800-7686200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:7684800-7687200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr18:7685000-7685400	Enhancers	A549	lung
22	chr18:7685000-7685600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr18:7685000-7686200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr18:7685200-7685400	Enhancers	Psoas Muscle	Psoas
25	chr18:7685200-7685600	Weak transcription	Right Ventricle	heart
26	chr18:7685200-7686000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:7685200-7686000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:7685200-7694000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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