Variant report

Variant	rs1785308
Chromosome Location	chr18:12555610-12555611
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16939680	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4796966	0.85[ASN][1000 genomes]
rs479860	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs507868	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs514831	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs550613	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56063272	0.87[ASN][1000 genomes]
rs56328751	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs575093	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58135011	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60876158	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61542301	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61635631	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62095972	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62097130	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62097132	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62097145	0.91[ASN][1000 genomes]
rs8089003	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9635805	0.80[ASN][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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	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	chr18:12546800-12557000	Weak transcription	Ovary	ovary
2	chr18:12552400-12555800	Weak transcription	HSMMtube	muscle
3	chr18:12552400-12556600	Weak transcription	NHDF-Ad	bronchial
4	chr18:12552400-12557000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:12552400-12557200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr18:12552400-12557800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr18:12552400-12559600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:12552400-12560000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:12552600-12556600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:12552600-12557000	Weak transcription	Pancreas	Pancrea
11	chr18:12552600-12558000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr18:12553000-12557000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr18:12553200-12559600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr18:12553400-12557000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr18:12553600-12556800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:12553600-12557000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:12553600-12557200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr18:12553600-12557200	Weak transcription	Esophagus	oesophagus
19	chr18:12553600-12567600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr18:12553600-12574600	Weak transcription	Right Ventricle	heart
21	chr18:12553800-12560000	Weak transcription	Left Ventricle	heart
22	chr18:12553800-12569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:12554200-12567600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr18:12555200-12557000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:12555200-12559400	Weak transcription	Aorta	Aorta

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