Variant report

Variant	rs58489813
Chromosome Location	chr18:8299449-8299450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10502368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12326322	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953204	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798622	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56674649	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60326722	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61485545	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9807194	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9807538	0.93[ASN][1000 genomes]
rs9958034	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9958779	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv817782	chr18:8297072-8300337	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2752373	chr18:8298090-8307219	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8284600-8300600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr18:8284800-8301000	Weak transcription	Osteobl	bone
3	chr18:8287800-8306800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:8289000-8300600	Weak transcription	Spleen	Spleen
5	chr18:8289000-8301600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr18:8289000-8308200	Weak transcription	Psoas Muscle	Psoas
7	chr18:8289200-8300400	Weak transcription	Fetal Brain Female	brain
8	chr18:8289200-8300400	Weak transcription	Fetal Heart	heart
9	chr18:8289200-8300800	Weak transcription	Pancreas	Pancrea
10	chr18:8289200-8301600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:8289200-8319400	Weak transcription	Right Ventricle	heart
12	chr18:8289200-8327400	Weak transcription	Fetal Stomach	stomach
13	chr18:8289200-8329400	Weak transcription	Fetal Muscle Leg	muscle
14	chr18:8291400-8300400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr18:8293600-8300000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr18:8294200-8319000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr18:8295000-8300800	Weak transcription	Brain Hippocampus Middle	brain
19	chr18:8295000-8312400	Weak transcription	Primary T cells from cord blood	blood
20	chr18:8295200-8301000	Weak transcription	HMEC	breast
21	chr18:8297000-8300800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr18:8297000-8303600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:8297000-8328200	Weak transcription	Brain Anterior Caudate	brain
24	chr18:8297200-8316200	Weak transcription	Fetal Thymus	thymus
25	chr18:8297200-8327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr18:8297400-8300800	Weak transcription	Fetal Kidney	kidney
27	chr18:8297600-8301200	Weak transcription	NH-A	brain
28	chr18:8297800-8301400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:8297800-8301400	Weak transcription	NHLF	lung
30	chr18:8297800-8301600	Weak transcription	Lung	lung
31	chr18:8298200-8300600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:8298200-8301600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr18:8298200-8319600	Weak transcription	A549	lung
34	chr18:8298200-8327000	Weak transcription	Ovary	ovary
35	chr18:8298400-8300800	Weak transcription	Fetal Lung	lung
36	chr18:8298400-8301400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr18:8298400-8306400	Weak transcription	HSMMtube	muscle
38	chr18:8298400-8311800	Weak transcription	Left Ventricle	heart
39	chr18:8298400-8312800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr18:8298400-8324800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:8298400-8329400	Weak transcription	Aorta	Aorta
42	chr18:8298600-8299600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr18:8298600-8300800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr18:8298600-8301000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr18:8298600-8302000	Enhancers	Liver	Liver
46	chr18:8298600-8306200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr18:8298600-8306600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr18:8298600-8315600	Weak transcription	Adipose Nuclei	Adipose
49	chr18:8298600-8320200	Weak transcription	Thymus	Thymus
50	chr18:8298600-8327000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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