Variant report

Variant	rs9953560
Chromosome Location	chr18:8065738-8065739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12103962	0.82[AFR][1000 genomes]
rs28367342	0.82[AFR][1000 genomes]
rs28478486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28504250	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28511885	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28521877	0.82[AFR][1000 genomes]
rs28526245	0.82[AFR][1000 genomes]
rs28557220	0.88[AFR][1000 genomes]
rs28569201	0.82[AFR][1000 genomes]
rs28578123	1.00[AMR][1000 genomes]
rs28611270	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28709298	0.82[AFR][1000 genomes]
rs73385648	0.82[AFR][1000 genomes]
rs73385649	0.82[AFR][1000 genomes]
rs73385658	0.82[AFR][1000 genomes]
rs73385659	0.82[AFR][1000 genomes]
rs9946952	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9948263	0.82[AFR][1000 genomes]
rs9950590	0.82[AFR][1000 genomes]
rs9952873	0.82[AFR][1000 genomes]
rs9955097	0.82[AFR][1000 genomes]
rs9957461	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9958058	0.82[AFR][1000 genomes]
rs9958245	1.00[AMR][1000 genomes]
rs9963467	0.82[AFR][1000 genomes]
rs9965217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9966934	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8045800-8072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:8047000-8073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:8052600-8078200	Weak transcription	Ovary	ovary
4	chr18:8052600-8105200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:8063600-8066000	Weak transcription	HepG2	liver
6	chr18:8063600-8073800	Weak transcription	Pancreas	Pancrea
7	chr18:8063600-8074000	Weak transcription	Liver	Liver
8	chr18:8063800-8066200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:8063800-8066400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr18:8063800-8066600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr18:8063800-8067600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr18:8064000-8066400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr18:8064600-8068000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr18:8064800-8069600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:8065000-8067800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr18:8065000-8068000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr18:8065200-8065800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:8065200-8068000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:8065400-8066400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr18:8065400-8066600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:8065400-8066800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr18:8065400-8066800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:8065600-8065800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr18:8065600-8069200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr18:8065600-8069600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:8065600-8073600	Weak transcription	Left Ventricle	heart
27	chr18:8065600-8101600	Weak transcription	Aorta	Aorta

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