Variant report

Variant	rs73387584
Chromosome Location	chr18:7657267-7657268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11876323	1.00[EUR][1000 genomes]
rs13313691	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13381320	0.84[AFR][1000 genomes]
rs16952317	1.00[EUR][1000 genomes]
rs55983357	0.86[AFR][1000 genomes]
rs57109716	1.00[EUR][1000 genomes]
rs57208702	0.93[EUR][1000 genomes]
rs58291169	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs58361187	0.89[AFR][1000 genomes]
rs73387558	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7631000-7662800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:7646600-7663200	Weak transcription	Pancreas	Pancrea
3	chr18:7646800-7658400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:7649400-7663000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:7656000-7657400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr18:7656200-7658800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:7656200-7659600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr18:7656400-7657800	Enhancers	Left Ventricle	heart
9	chr18:7656400-7662000	Enhancers	Psoas Muscle	Psoas
10	chr18:7656600-7657400	Enhancers	Ovary	ovary
11	chr18:7656800-7657600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr18:7656800-7658200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:7656800-7658200	Enhancers	Fetal Lung	lung
14	chr18:7656800-7658200	Enhancers	Right Ventricle	heart
15	chr18:7656800-7658400	Enhancers	A549	lung
16	chr18:7656800-7658600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr18:7656800-7659600	Enhancers	HepG2	liver
18	chr18:7656800-7659800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:7657000-7657400	Enhancers	Rectal Smooth Muscle	rectum
20	chr18:7657000-7658400	Weak transcription	Right Atrium	heart
21	chr18:7657000-7668400	Weak transcription	Gastric	stomach
22	chr18:7657200-7657400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:7657200-7657400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr18:7657200-7657400	Enhancers	Fetal Muscle Trunk	muscle
25	chr18:7657200-7657400	Enhancers	Lung	lung
26	chr18:7657200-7657400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr18:7657200-7657600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:7657200-7657600	Weak transcription	Adipose Nuclei	Adipose
29	chr18:7657200-7657600	Enhancers	Colon Smooth Muscle	Colon
30	chr18:7657200-7657600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr18:7657200-7657800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr18:7657200-7657800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr18:7657200-7657800	Enhancers	Spleen	Spleen
34	chr18:7657200-7658000	Enhancers	Fetal Brain Male	brain
35	chr18:7657200-7658000	Flanking Active TSS	Fetal Heart	heart
36	chr18:7657200-7658600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:7657200-7658800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr18:7657200-7659000	Enhancers	Aorta	Aorta
39	chr18:7657200-7660400	Enhancers	Placenta	Placenta

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