Variant report

Variant	rs4798573
Chromosome Location	chr18:7585129-7585130
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1893223	0.81[CEU][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1941136	0.91[EUR][1000 genomes]
rs1941137	0.85[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1941138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1941141	0.86[JPT][hapmap]
rs28399859	0.92[EUR][1000 genomes]
rs28558612	0.86[EUR][1000 genomes]
rs475107	0.87[ASN][1000 genomes]
rs4798571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489659	0.94[ASN][1000 genomes]
rs510314	0.91[ASN][1000 genomes]
rs512121	0.91[ASN][1000 genomes]
rs521887	0.81[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs523776	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs524833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535937	0.81[CEU][hapmap]
rs536309	0.92[ASN][1000 genomes]
rs565784	0.82[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs60063	0.92[ASN][1000 genomes]
rs67536179	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7233631	0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs8086999	0.81[CEU][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8098234	0.86[EUR][1000 genomes]
rs9949194	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7573400-7585600	Weak transcription	Small Intestine	intestine
2	chr18:7578400-7595000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:7579200-7588800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:7579800-7596000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:7580200-7590200	Weak transcription	NHLF	lung
6	chr18:7580400-7585400	Weak transcription	NH-A	brain
7	chr18:7580400-7591000	Weak transcription	HSMMtube	muscle
8	chr18:7580600-7600800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:7581000-7585600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr18:7582800-7585200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:7583000-7595000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr18:7583400-7585200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:7583800-7585200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr18:7584200-7585200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr18:7584200-7586400	Enhancers	Ovary	ovary
16	chr18:7584200-7586600	Enhancers	Fetal Lung	lung
17	chr18:7584200-7586600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr18:7584200-7586800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:7584400-7586000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:7584600-7585200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr18:7584600-7585200	Weak transcription	Fetal Kidney	kidney
22	chr18:7584600-7585600	Enhancers	Fetal Stomach	stomach
23	chr18:7584600-7585800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr18:7584600-7586000	Enhancers	Osteobl	bone
25	chr18:7584600-7586200	Enhancers	Right Ventricle	heart
26	chr18:7584600-7586400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr18:7584600-7586800	Enhancers	Adipose Nuclei	Adipose
28	chr18:7584600-7586800	Enhancers	Colon Smooth Muscle	Colon
29	chr18:7584800-7585200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:7584800-7585200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:7584800-7585200	Enhancers	Fetal Muscle Trunk	muscle
32	chr18:7584800-7585200	Enhancers	Fetal Muscle Leg	muscle
33	chr18:7584800-7585200	Enhancers	Placenta	Placenta
34	chr18:7584800-7585200	Weak transcription	A549	lung
35	chr18:7584800-7585400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr18:7584800-7585400	Enhancers	Right Atrium	heart
37	chr18:7584800-7585600	Enhancers	Brain Anterior Caudate	brain
38	chr18:7584800-7585800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:7584800-7586000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr18:7584800-7586000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr18:7584800-7586400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:7584800-7586400	Enhancers	Aorta	Aorta
43	chr18:7584800-7586400	Enhancers	Brain Angular Gyrus	brain
44	chr18:7584800-7586400	Enhancers	Brain Substantia Nigra	brain
45	chr18:7584800-7586400	Enhancers	Gastric	stomach
46	chr18:7584800-7586400	Enhancers	Lung	lung
47	chr18:7584800-7586400	Enhancers	Pancreas	Pancrea
48	chr18:7584800-7586400	Enhancers	Rectal Smooth Muscle	rectum
49	chr18:7584800-7586600	Enhancers	Left Ventricle	heart
50	chr18:7584800-7586600	Enhancers	Psoas Muscle	Psoas

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