Variant report

Variant	rs7241594
Chromosome Location	chr18:7579007-7579008
allele	C/T
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:20)

rs_ID	r²[population]
rs11876394	0.97[EUR][1000 genomes]
rs13313691	0.97[EUR][1000 genomes]
rs28375830	0.97[EUR][1000 genomes]
rs28507304	0.97[EUR][1000 genomes]
rs4798572	0.83[EUR][1000 genomes]
rs55669819	0.97[EUR][1000 genomes]
rs56165536	0.97[EUR][1000 genomes]
rs58291169	0.97[EUR][1000 genomes]
rs58361187	0.97[EUR][1000 genomes]
rs7231577	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7235826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73387558	0.97[EUR][1000 genomes]
rs73387591	0.97[EUR][1000 genomes]
rs8089761	0.93[EUR][1000 genomes]
rs8092801	0.81[EUR][1000 genomes]
rs8093669	0.82[CHB][hapmap]
rs9946337	0.97[EUR][1000 genomes]
rs9953865	0.81[YRI][hapmap]
rs9954075	0.97[EUR][1000 genomes]
rs9956231	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491761	chr18:6973010-7595578	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2656232	chr18:7111033-7658679	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532282	chr18:7115075-7608218	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1063350	chr18:7215275-7659999	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	esv1792935	chr18:7566815-7584667	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7573400-7579800	Weak transcription	Fetal Lung	lung
2	chr18:7573400-7585600	Weak transcription	Small Intestine	intestine
3	chr18:7575200-7580000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr18:7575200-7580600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:7576000-7584600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr18:7576200-7580400	Enhancers	Osteobl	bone
7	chr18:7576200-7583400	Weak transcription	Fetal Kidney	kidney
8	chr18:7576400-7580000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:7576400-7580600	Enhancers	NHDF-Ad	bronchial
10	chr18:7576400-7584800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr18:7576600-7584600	Weak transcription	Adipose Nuclei	Adipose
12	chr18:7576800-7579800	Weak transcription	Colon Smooth Muscle	Colon
13	chr18:7576800-7580200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr18:7577600-7579200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:7577800-7579600	Enhancers	Left Ventricle	heart
16	chr18:7577800-7580600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:7577800-7584800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr18:7578000-7579400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:7578000-7579800	Enhancers	A549	lung
20	chr18:7578000-7580400	Enhancers	NH-A	brain
21	chr18:7578000-7582200	Weak transcription	Right Atrium	heart
22	chr18:7578000-7584800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr18:7578200-7579200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr18:7578200-7579200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:7578200-7579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:7578200-7579400	Weak transcription	Fetal Heart	heart
27	chr18:7578200-7579600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:7578200-7579800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr18:7578200-7579800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr18:7578200-7579800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr18:7578200-7580400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:7578200-7581800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr18:7578200-7582200	Weak transcription	Pancreas	Pancrea
34	chr18:7578200-7582400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:7578200-7585000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr18:7578200-7585000	Weak transcription	HMEC	breast
37	chr18:7578400-7579800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr18:7578400-7580200	Weak transcription	Psoas Muscle	Psoas
39	chr18:7578400-7582200	Weak transcription	Lung	lung
40	chr18:7578400-7595000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:7578600-7579200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:7578600-7580200	Enhancers	NHLF	lung
43	chr18:7578800-7580000	Enhancers	NHEK	skin
44	chr18:7578800-7580200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:7578800-7580400	Enhancers	HSMMtube	muscle
46	chr18:7578800-7580600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr18:7579000-7579200	Enhancers	HSMM	muscle
48	chr18:7579000-7579800	Weak transcription	Right Ventricle	heart
49	chr18:7579000-7584600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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