Variant report

Variant	rs73389753
Chromosome Location	chr18:8158850-8158851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11874504	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952952	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2058469	1.00[EUR][1000 genomes]
rs2058470	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2098265	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4121769	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs521237	1.00[EUR][1000 genomes]
rs552322	0.87[EUR][1000 genomes]
rs626707	1.00[EUR][1000 genomes]
rs722021	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs722022	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7230799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7236897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389727	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389728	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389732	1.00[EUR][1000 genomes]
rs73389739	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389741	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389742	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs741110	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
2	chr18:8141600-8159200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr18:8142600-8160200	Weak transcription	Psoas Muscle	Psoas
4	chr18:8142600-8162400	Weak transcription	Right Ventricle	heart
5	chr18:8146200-8162600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr18:8147400-8159400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr18:8152000-8167200	Weak transcription	Gastric	stomach
8	chr18:8154200-8161000	Weak transcription	NH-A	brain
9	chr18:8154200-8162600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:8154600-8160600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:8154600-8163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:8154800-8160200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:8154800-8161800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr18:8155200-8162600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:8156600-8161600	Weak transcription	HepG2	liver
16	chr18:8157400-8159000	ZNF genes & repeats	Aorta	Aorta
17	chr18:8157400-8159000	Strong transcription	A549	lung
18	chr18:8157600-8159000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:8157600-8167000	Weak transcription	Brain Anterior Caudate	brain
20	chr18:8157800-8159000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:8157800-8160800	Weak transcription	Brain Angular Gyrus	brain
22	chr18:8158000-8159800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:8158000-8165400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr18:8158200-8159200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:8158600-8159000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:8158600-8159000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:8158600-8159000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:8158600-8159000	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr18:8158600-8159000	ZNF genes & repeats	Fetal Lung	lung
30	chr18:8158600-8159000	ZNF genes & repeats	Lung	lung
31	chr18:8158800-8159000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr18:8158800-8159000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:8158800-8159000	ZNF genes & repeats	Fetal Kidney	kidney
34	chr18:8158800-8159000	ZNF genes & repeats	Left Ventricle	heart
35	chr18:8158800-8159000	ZNF genes & repeats	Pancreas	Pancrea
36	chr18:8158800-8160400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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