Variant report

Variant	rs73939446
Chromosome Location	chr18:8366177-8366178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs73939447	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939448	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939450	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939452	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939455	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939456	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939460	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939461	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939462	1.00[AMR][1000 genomes]
rs73939463	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939466	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8342200-8366800	Weak transcription	Adipose Nuclei	Adipose
2	chr18:8342200-8367400	Weak transcription	Aorta	Aorta
3	chr18:8342600-8366400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr18:8344200-8367000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:8346400-8366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:8350200-8366200	Weak transcription	Pancreas	Pancrea
7	chr18:8350200-8367200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr18:8352400-8367200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:8352600-8372600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:8354800-8366800	Weak transcription	HSMMtube	muscle
11	chr18:8355200-8378200	Weak transcription	Gastric	stomach
12	chr18:8357800-8366800	Weak transcription	Spleen	Spleen
13	chr18:8358400-8378200	Weak transcription	HepG2	liver
14	chr18:8358800-8366800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr18:8359800-8367200	Weak transcription	Right Atrium	heart
16	chr18:8360000-8366800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:8360000-8366800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:8360600-8367200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:8360600-8367400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:8361400-8367200	Weak transcription	HMEC	breast
21	chr18:8363200-8369000	Enhancers	Fetal Heart	heart
22	chr18:8364200-8375800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr18:8364800-8367200	Enhancers	Left Ventricle	heart
24	chr18:8365000-8366800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr18:8365200-8366200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:8365400-8367200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr18:8365400-8378200	Weak transcription	Colon Smooth Muscle	Colon
28	chr18:8365600-8366200	Weak transcription	Lung	lung
29	chr18:8365600-8367200	Enhancers	Psoas Muscle	Psoas
30	chr18:8365600-8367200	Enhancers	Right Ventricle	heart
31	chr18:8365800-8366200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:8366000-8366400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:8366000-8367000	Enhancers	Skeletal Muscle Male	skeletal muscle

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