Variant report

Variant	rs8083862
Chromosome Location	chr18:8102268-8102269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16952894	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16952902	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17397183	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17397841	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17475401	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1942956	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4456614	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs534675	0.84[ASN][1000 genomes]
rs538985	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs550672	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs641156	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6506547	0.84[AFR][1000 genomes]
rs6506549	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7236194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7241382	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73387768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8095101	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8099028	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8099174	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8052600-8105200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:8067400-8110200	Weak transcription	Right Ventricle	heart
3	chr18:8068400-8102400	Weak transcription	Fetal Thymus	thymus
4	chr18:8068600-8124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:8069000-8102400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:8069000-8102400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:8069400-8103400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr18:8069600-8102400	Weak transcription	Brain Anterior Caudate	brain
9	chr18:8074200-8102400	Weak transcription	Psoas Muscle	Psoas
10	chr18:8084400-8102800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:8084600-8102600	Weak transcription	NH-A	brain
12	chr18:8084600-8108000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr18:8085200-8102800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr18:8086200-8102400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr18:8086400-8102400	Weak transcription	Adipose Nuclei	Adipose
16	chr18:8086400-8102600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:8088600-8103000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:8088800-8113400	Weak transcription	A549	lung
19	chr18:8089800-8102400	Weak transcription	Fetal Kidney	kidney
20	chr18:8091400-8102600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:8091600-8102600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:8092800-8122200	Weak transcription	Thymus	Thymus
23	chr18:8093400-8104800	Weak transcription	Ovary	ovary
24	chr18:8094000-8102400	Weak transcription	Fetal Lung	lung
25	chr18:8096600-8125000	Weak transcription	Pancreas	Pancrea
26	chr18:8097800-8102600	Weak transcription	Fetal Heart	heart
27	chr18:8098400-8102400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:8099000-8102400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:8099600-8104200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:8100200-8102600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr18:8100400-8106800	Weak transcription	Lung	lung
32	chr18:8101000-8104000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:8101400-8102600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr18:8101600-8102600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:8101800-8102600	Weak transcription	Aorta	Aorta
36	chr18:8101800-8103200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:8102000-8103600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:8102200-8103000	Strong transcription	Left Ventricle	heart
39	chr18:8102200-8103400	ZNF genes & repeats	Liver	Liver
40	chr18:8102200-8103600	ZNF genes & repeats	Fetal Muscle Leg	muscle

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