Variant report

Variant	rs7238517
Chromosome Location	chr18:7982771-7982772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16952755	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs16952764	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16952768	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs17566436	1.00[CEU][hapmap]
rs17566499	1.00[CEU][hapmap]
rs17566876	1.00[CEU][hapmap]
rs4633833	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs58340686	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6506540	0.81[CHB][hapmap]
rs718274	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7227734	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7228385	1.00[CEU][hapmap]
rs7229479	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7232467	1.00[CEU][hapmap]
rs7237410	0.89[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7241732	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7244725	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8084791	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs8088827	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8089170	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8096083	0.90[CHB][hapmap]
rs8096085	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7959000-7987400	Weak transcription	Ovary	ovary
2	chr18:7964800-7984200	Weak transcription	Adipose Nuclei	Adipose
3	chr18:7966000-7982800	Weak transcription	A549	lung
4	chr18:7966000-7987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:7966000-7989600	Weak transcription	Lung	lung
6	chr18:7975200-7983400	Weak transcription	Fetal Heart	heart
7	chr18:7976400-7986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr18:7977800-7985800	Weak transcription	Brain Anterior Caudate	brain
9	chr18:7977800-7986600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:7978200-7986200	Weak transcription	Brain Hippocampus Middle	brain
11	chr18:7978200-7986400	Weak transcription	Aorta	Aorta
12	chr18:7978200-7986400	Weak transcription	Right Atrium	heart
13	chr18:7979600-7983800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:7980000-7983000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:7980200-7985800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:7981200-7995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:7982200-7982800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr18:7982400-7982800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:7982400-7982800	Enhancers	Osteobl	bone
20	chr18:7982400-7983000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:7982400-7983400	Enhancers	Left Ventricle	heart
22	chr18:7982600-7982800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:7982600-7983200	Enhancers	NH-A	brain
24	chr18:7982600-7984400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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