Variant report

Variant	rs8088827
Chromosome Location	chr18:7976121-7976122
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:15)

rs_ID	r²[population]
rs16952755	0.88[EUR][1000 genomes]
rs16952764	0.89[EUR][1000 genomes]
rs16952768	0.88[EUR][1000 genomes]
rs4633833	0.89[EUR][1000 genomes]
rs58340686	0.92[EUR][1000 genomes]
rs718274	0.89[EUR][1000 genomes]
rs7227734	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7229479	0.92[EUR][1000 genomes]
rs7237410	0.91[EUR][1000 genomes]
rs7238517	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7241732	0.92[EUR][1000 genomes]
rs7244725	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8084791	0.92[EUR][1000 genomes]
rs8089170	0.94[EUR][1000 genomes]
rs8096085	0.86[EUR][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	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv521059	chr18:7962217-7981018	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7947200-7981400	Weak transcription	Fetal Stomach	stomach
2	chr18:7956000-7980800	Weak transcription	Fetal Thymus	thymus
3	chr18:7956000-7982400	Weak transcription	Fetal Muscle Leg	muscle
4	chr18:7957600-7980600	Weak transcription	Right Ventricle	heart
5	chr18:7959000-7987400	Weak transcription	Ovary	ovary
6	chr18:7959200-7982400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:7963800-7977400	Weak transcription	Aorta	Aorta
8	chr18:7964800-7977200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:7964800-7984200	Weak transcription	Adipose Nuclei	Adipose
10	chr18:7966000-7979600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:7966000-7980800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:7966000-7981600	Weak transcription	Thymus	Thymus
13	chr18:7966000-7982800	Weak transcription	A549	lung
14	chr18:7966000-7987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:7966000-7989600	Weak transcription	Lung	lung
16	chr18:7966600-7977400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:7966600-7979600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:7974200-7977200	Weak transcription	Left Ventricle	heart
19	chr18:7974200-7977400	Weak transcription	Right Atrium	heart
20	chr18:7975200-7977400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr18:7975200-7983400	Weak transcription	Fetal Heart	heart

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