Variant report

Variant	rs8091758
Chromosome Location	chr18:7584667-7584668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11872624	0.81[GIH][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs16952138	0.84[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs16952164	0.81[GIH][hapmap];1.00[TSI][hapmap]
rs16952176	0.95[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs16952201	0.81[GIH][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs16952206	0.81[GIH][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs2136367	0.84[ASN][1000 genomes]
rs4798570	0.84[ASN][1000 genomes]
rs4798574	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4798575	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs56747089	0.81[ASN][1000 genomes]
rs61366429	0.83[ASN][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7573400-7585600	Weak transcription	Small Intestine	intestine
2	chr18:7576400-7584800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr18:7577800-7584800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:7578000-7584800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:7578200-7585000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr18:7578200-7585000	Weak transcription	HMEC	breast
7	chr18:7578400-7595000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:7579200-7588800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:7579800-7596000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:7580000-7584800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:7580200-7590200	Weak transcription	NHLF	lung
12	chr18:7580400-7585400	Weak transcription	NH-A	brain
13	chr18:7580400-7591000	Weak transcription	HSMMtube	muscle
14	chr18:7580600-7584800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:7580600-7600800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:7580800-7584800	Weak transcription	Brain Anterior Caudate	brain
17	chr18:7581000-7585600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:7581200-7585000	Weak transcription	Brain Hippocampus Middle	brain
19	chr18:7582600-7584800	Weak transcription	Lung	lung
20	chr18:7582600-7584800	Weak transcription	Pancreas	Pancrea
21	chr18:7582800-7584800	Weak transcription	Right Atrium	heart
22	chr18:7582800-7585200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:7583000-7584800	Weak transcription	Spleen	Spleen
24	chr18:7583000-7595000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr18:7583200-7585000	Weak transcription	NHDF-Ad	bronchial
26	chr18:7583400-7584800	Weak transcription	Left Ventricle	heart
27	chr18:7583400-7585200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:7583600-7584800	Weak transcription	Psoas Muscle	Psoas
29	chr18:7583800-7585200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr18:7584000-7584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:7584200-7585000	Weak transcription	Fetal Heart	heart
32	chr18:7584200-7585200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr18:7584200-7586400	Enhancers	Ovary	ovary
34	chr18:7584200-7586600	Enhancers	Fetal Lung	lung
35	chr18:7584200-7586600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr18:7584200-7586800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:7584400-7586000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:7584600-7584800	Enhancers	A549	lung
39	chr18:7584600-7585000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr18:7584600-7585200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr18:7584600-7585200	Weak transcription	Fetal Kidney	kidney
42	chr18:7584600-7585600	Enhancers	Fetal Stomach	stomach
43	chr18:7584600-7585800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr18:7584600-7586000	Enhancers	Osteobl	bone
45	chr18:7584600-7586200	Enhancers	Right Ventricle	heart
46	chr18:7584600-7586400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr18:7584600-7586800	Enhancers	Adipose Nuclei	Adipose
48	chr18:7584600-7586800	Enhancers	Colon Smooth Muscle	Colon

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