Variant report

Variant	rs9540717
Chromosome Location	chr13:66917219-66917220
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:66909684..66911530-chr13:66916300..66919201,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1158646	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1158647	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs12864905	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1334398	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1413573	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1444387	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1831972	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2324888	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2875472	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4635220	0.86[EUR][1000 genomes]
rs7319883	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs7983403	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap]
rs7988498	0.85[EUR][1000 genomes]
rs7995375	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs7996220	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs930573	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9317585	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9529052	0.86[EUR][1000 genomes]
rs9529055	0.92[CEU][hapmap]
rs9540718	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9540720	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9540724	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9540728	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9540729	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs9540731	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs9540732	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9540734	0.92[CEU][hapmap]
rs9564313	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9571577	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9592461	0.92[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
12	nsv900389	chr13:66867794-66961006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66905000-66918800	Weak transcription	Brain Hippocampus Middle	brain
2	chr13:66915600-66919000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:66915800-66917600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:66915800-66918600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:66915800-66918800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr13:66915800-66919000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:66916000-66917400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:66916000-66917600	Weak transcription	Left Ventricle	heart
9	chr13:66916000-66917800	Weak transcription	Brain Angular Gyrus	brain
10	chr13:66916000-66917800	Weak transcription	Brain Substantia Nigra	brain
11	chr13:66916200-66917600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:66916200-66918600	Weak transcription	Colon Smooth Muscle	Colon
13	chr13:66916200-66918800	Weak transcription	Fetal Lung	lung
14	chr13:66916200-66919000	Weak transcription	Fetal Kidney	kidney
15	chr13:66916600-66919000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:66917000-66918000	Flanking Active TSS	Fetal Heart	heart

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