Variant report

Variant	rs17081038
Chromosome Location	chr13:66839427-66839428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr13:66838916-66839601	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr13:66838935-66839724	ECC-1	luminal epithelium:	n/a	n/a
3	TCF12	chr13:66838993-66839628	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr13:66838820-66839643	ECC-1	luminal epithelium:	n/a	n/a
5	NFIC	chr13:66838922-66839632	ECC-1	luminal epithelium:	n/a	n/a
6	KAP1	chr13:66839281-66839837	U2OS	brain:	n/a	n/a
7	KAP1	chr13:66839231-66839840	HEK293	kidney:	n/a	n/a
8	NR3C1	chr13:66839098-66839460	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
TRIM60P19	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1322731	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs1322733	1.00[JPT][hapmap]
rs1413574	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs166503	0.88[CHB][hapmap];1.00[CHD][hapmap]
rs17070544	1.00[AFR][1000 genomes]
rs17080965	1.00[AFR][1000 genomes]
rs17080983	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17080985	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17081039	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17081043	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17081053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17081111	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17081126	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs17081127	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs17081132	0.88[CHB][hapmap];1.00[AFR][1000 genomes]
rs4133781	1.00[AFR][1000 genomes]
rs5022006	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7990084	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs9634933	0.90[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047991	chr13:65982529-66931617	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv900387	chr13:66725708-66863184	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
12	nsv562097	chr13:66791133-66843296	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
13	nsv900388	chr13:66798923-66919700	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
14	nsv1054050	chr13:66821545-66914754	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66837600-66840400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr13:66838600-66840000	Enhancers	Brain Germinal Matrix	brain
3	chr13:66839000-66839600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr13:66839000-66840000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:66839000-66840000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:66839200-66839600	Active TSS	Brain Angular Gyrus	brain
7	chr13:66839200-66839600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr13:66839200-66839600	Flanking Active TSS	Fetal Brain Female	brain
9	chr13:66839200-66839800	Active TSS	Brain Substantia Nigra	brain
10	chr13:66839200-66840000	Active TSS	Brain Anterior Caudate	brain
11	chr13:66839200-66840000	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr13:66839200-66840000	Active TSS	Brain Hippocampus Middle	brain
13	chr13:66839200-66840000	Flanking Active TSS	Fetal Kidney	kidney
14	chr13:66839200-66840200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:66839400-66839600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:66839400-66839600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr13:66839400-66839800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:66839400-66839800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:66839400-66839800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:66839400-66839800	Enhancers	NH-A	brain
21	chr13:66839400-66839800	Active TSS	Osteobl	bone
22	chr13:66839400-66840200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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