Variant report

Variant	rs489590
Chromosome Location	chr18:8134319-8134320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs512522	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs530290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs557952	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs565798	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs577369	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs585266	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs591062	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs591432	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs603243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs618381	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs633126	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs644183	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs663105	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs684974	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs687245	0.87[EUR][1000 genomes];0.96[ASN][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8103600-8136600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:8103600-8139200	Weak transcription	Brain Anterior Caudate	brain
3	chr18:8110400-8138600	Weak transcription	Fetal Muscle Leg	muscle
4	chr18:8111200-8137200	Weak transcription	Left Ventricle	heart
5	chr18:8117200-8137800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:8117400-8153200	Weak transcription	Liver	Liver
7	chr18:8119200-8138200	Weak transcription	Ovary	ovary
8	chr18:8121200-8145600	Weak transcription	Primary T cells from cord blood	blood
9	chr18:8122400-8157400	Weak transcription	Aorta	Aorta
10	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
11	chr18:8125200-8137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:8125200-8138600	Weak transcription	Adipose Nuclei	Adipose
13	chr18:8125200-8138600	Weak transcription	Lung	lung
14	chr18:8125200-8141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:8125800-8138800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:8125800-8139200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:8126200-8139400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr18:8126800-8153200	Weak transcription	A549	lung
19	chr18:8127000-8137400	Weak transcription	Psoas Muscle	Psoas
20	chr18:8131200-8139200	Weak transcription	NHDF-Ad	bronchial
21	chr18:8131600-8135600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:8132600-8135800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:8133000-8144000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr18:8133200-8141000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:8133400-8139200	Weak transcription	HSMM	muscle

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