Variant report

Variant	rs1334392
Chromosome Location	chr13:66980454-66980455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:66978910..66981496-chr13:66983194..66984802,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12872307	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1545310	0.82[CEU][hapmap];0.91[JPT][hapmap]
rs2781777	0.95[GIH][hapmap]
rs387205	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs411568	0.95[GIH][hapmap]
rs4884672	0.82[CEU][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap]
rs7335426	0.82[CEU][hapmap];0.91[JPT][hapmap]
rs7336222	0.82[CEU][hapmap];0.91[JPT][hapmap];0.85[TSI][hapmap]
rs9285254	0.82[CEU][hapmap];0.91[JPT][hapmap];0.85[TSI][hapmap]
rs9317587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9317588	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs9540742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9592470	0.82[CEU][hapmap];0.91[JPT][hapmap];0.85[TSI][hapmap]
rs9599114	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][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:43 , 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	chr13:66978400-66981600	Enhancers	HSMM	muscle
4	chr13:66978600-66981200	Enhancers	NHEK	skin
5	chr13:66979200-66980600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:66979200-66981400	Enhancers	HSMMtube	muscle
7	chr13:66979200-66982000	Enhancers	Brain Cingulate Gyrus	brain
8	chr13:66979400-66981600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:66979600-66980600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr13:66979600-66980800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr13:66979600-66980800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:66979600-66980800	Enhancers	HMEC	breast
13	chr13:66979600-66981200	Enhancers	Brain Substantia Nigra	brain
14	chr13:66979600-66981400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr13:66979600-66981600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:66979600-66981800	Enhancers	Brain Hippocampus Middle	brain
17	chr13:66979600-66983200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr13:66979600-66984200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:66979800-66980600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:66979800-66980600	Enhancers	Colon Smooth Muscle	Colon
21	chr13:66979800-66981000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:66979800-66981200	Enhancers	NHDF-Ad	bronchial
23	chr13:66979800-66981400	Enhancers	A549	lung
24	chr13:66980000-66980600	Enhancers	Fetal Heart	heart
25	chr13:66980000-66981000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:66980000-66981200	Enhancers	Fetal Stomach	stomach
27	chr13:66980000-66981400	Enhancers	Brain Anterior Caudate	brain
28	chr13:66980000-66981800	Enhancers	Brain Angular Gyrus	brain
29	chr13:66980000-66981800	Enhancers	NH-A	brain
30	chr13:66980200-66980600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:66980200-66980600	Flanking Active TSS	Hela-S3	cervix
32	chr13:66980200-66980600	Flanking Active TSS	Osteobl	bone
33	chr13:66980200-66980800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:66980200-66980800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:66980200-66980800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr13:66980200-66980800	Enhancers	Fetal Lung	lung
37	chr13:66980200-66981400	Enhancers	Rectal Smooth Muscle	rectum
38	chr13:66980200-66981600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr13:66980200-66981600	Enhancers	Fetal Kidney	kidney
40	chr13:66980200-66981800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:66980400-66980600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:66980400-66981200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:66980400-66982000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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