Variant report

Variant	rs1785317
Chromosome Location	chr18:12559470-12559471
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10853227	0.83[ASN][1000 genomes]
rs11080591	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11876191	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1785315	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1785316	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3931007	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6505759	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7504254	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7506835	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9960836	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9967267	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12552400-12559600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr18:12552400-12560000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:12553200-12559600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:12553600-12567600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:12553600-12574600	Weak transcription	Right Ventricle	heart
6	chr18:12553800-12560000	Weak transcription	Left Ventricle	heart
7	chr18:12553800-12569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:12554200-12567600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:12557000-12559600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:12557000-12559800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:12557000-12559800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr18:12557000-12560000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr18:12557600-12559600	Weak transcription	Esophagus	oesophagus
14	chr18:12557600-12580800	Weak transcription	Pancreas	Pancrea
15	chr18:12558000-12559600	ZNF genes & repeats	Fetal Stomach	stomach
16	chr18:12558200-12559600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:12558400-12560000	Weak transcription	Fetal Lung	lung
18	chr18:12558400-12569000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr18:12558400-12569200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr18:12558600-12570200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr18:12559200-12559600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:12559200-12559600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:12559200-12559800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:12559400-12559600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr18:12559400-12559600	ZNF genes & repeats	Aorta	Aorta
26	chr18:12559400-12559600	ZNF genes & repeats	Spleen	Spleen

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