Variant report

Variant	rs1444390
Chromosome Location	chr13:66981635-66981636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1373496	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1413578	0.83[EUR][1000 genomes]
rs1822686	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55956179	0.91[EUR][1000 genomes]
rs56183243	0.91[EUR][1000 genomes]
rs6562453	0.83[EUR][1000 genomes]
rs7328225	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7330383	0.81[EUR][1000 genomes]
rs73507925	1.00[EUR][1000 genomes]
rs73507999	0.91[EUR][1000 genomes]
rs73510004	0.91[EUR][1000 genomes]
rs73510014	0.91[EUR][1000 genomes]
rs73510021	0.91[EUR][1000 genomes]
rs7985286	0.81[EUR][1000 genomes]
rs7999816	0.80[EUR][1000 genomes]
rs9529059	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530416	chr13:66198235-67126195	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1053763	chr13:66210166-67184972	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541811	chr13:66210166-67184972	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv932195	chr13:66215786-67215733	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv530723	chr13:66219650-67200316	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1052017	chr13:66232288-67213033	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv534503	chr13:66287963-67126195	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv915828	chr13:66544825-67212201	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv1041133	chr13:66723731-67530595	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv1051051	chr13:66948744-67126296	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66975600-66983800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:66978000-66981800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:66979200-66982000	Enhancers	Brain Cingulate Gyrus	brain
4	chr13:66979600-66981800	Enhancers	Brain Hippocampus Middle	brain
5	chr13:66979600-66983200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:66979600-66984200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:66980000-66981800	Enhancers	Brain Angular Gyrus	brain
8	chr13:66980000-66981800	Enhancers	NH-A	brain
9	chr13:66980200-66981800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:66980400-66982000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr13:66980600-66983800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr13:66981000-66981800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:66981000-66981800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:66981200-66981800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:66981400-66982000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:66981600-66981800	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr13:66981600-66982000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:66981600-66983400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr13:66981600-66986800	Weak transcription	Fetal Kidney	kidney

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dbSNP/dbVar ID: rs12345 /nsv7879
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