Variant report

Variant	rs73391565
Chromosome Location	chr18:7723265-7723266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10163760	0.88[ASN][1000 genomes]
rs12165086	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12326071	0.88[ASN][1000 genomes]
rs13380901	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13381592	1.00[ASN][1000 genomes]
rs1530516	1.00[ASN][1000 genomes]
rs1664980	0.89[ASN][1000 genomes]
rs4121619	0.82[ASN][1000 genomes]
rs613706	0.89[ASN][1000 genomes]
rs629562	0.89[ASN][1000 genomes]
rs6506526	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679873	0.89[ASN][1000 genomes]
rs7230332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231079	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231089	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7239716	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73389595	0.88[ASN][1000 genomes]
rs73389600	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73939351	0.87[ASN][1000 genomes]
rs8085995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089054	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954459	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv458017	chr18:7689201-7747873	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv576420	chr18:7689201-7747873	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv470406	chr18:7700462-7747873	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7712200-7723400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:7717800-7723400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:7717800-7723400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:7718000-7723400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr18:7718000-7723400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:7718000-7723400	Weak transcription	Left Ventricle	heart
7	chr18:7720800-7723400	Weak transcription	Psoas Muscle	Psoas
8	chr18:7721600-7724000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:7721800-7723800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:7722200-7724000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr18:7722200-7727200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:7722800-7723800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr18:7722800-7723800	Enhancers	Fetal Heart	heart
14	chr18:7722800-7724200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr18:7722800-7724400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr18:7722800-7724600	Enhancers	Fetal Kidney	kidney
17	chr18:7723000-7723400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:7723000-7723800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr18:7723000-7724000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr18:7723000-7724200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr18:7723000-7724200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr18:7723000-7724200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr18:7723000-7727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr18:7723000-7733800	Weak transcription	A549	lung

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