Variant report

Variant	rs10853227
Chromosome Location	chr18:12615512-12615513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11080591	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11876191	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1785315	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1785316	0.83[ASN][1000 genomes]
rs1785317	0.83[ASN][1000 genomes]
rs3931007	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6505759	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7504254	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7506835	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9967267	0.83[EUR][1000 genomes];0.85[ASN][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	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	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
4	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
5	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12597800-12634600	Weak transcription	Aorta	Aorta
2	chr18:12602200-12638400	Weak transcription	Fetal Brain Female	brain
3	chr18:12606000-12615600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:12606200-12616200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:12607000-12640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr18:12607400-12615600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:12607400-12616000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:12607800-12651800	Weak transcription	Brain Germinal Matrix	brain
9	chr18:12608800-12628800	Weak transcription	NH-A	brain
10	chr18:12609200-12615800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr18:12609200-12629400	Weak transcription	HSMMtube	muscle
12	chr18:12609400-12621400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:12609400-12621600	Weak transcription	NHEK	skin
14	chr18:12609400-12628800	Weak transcription	HUVEC	blood vessel
15	chr18:12609600-12629000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr18:12609800-12622800	Weak transcription	Fetal Brain Male	brain
17	chr18:12610800-12615800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:12611200-12616200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:12611400-12616200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:12611400-12629000	Weak transcription	HSMM	muscle
21	chr18:12611600-12615800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:12611600-12621400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:12611600-12621400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr18:12611600-12629200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:12611800-12615600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr18:12611800-12630400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:12613000-12615800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr18:12614600-12615800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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