Variant report

Variant	rs17070281
Chromosome Location	chr13:48117659-48117660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1326480	0.90[ASN][1000 genomes]
rs1359664	0.95[ASN][1000 genomes]
rs1359666	0.95[ASN][1000 genomes]
rs1547654	0.95[ASN][1000 genomes]
rs1571064	0.95[ASN][1000 genomes]
rs1575895	0.95[ASN][1000 genomes]
rs2478310	0.90[ASN][1000 genomes]
rs2478311	0.90[ASN][1000 genomes]
rs2478313	0.90[ASN][1000 genomes]
rs2478317	0.95[ASN][1000 genomes]
rs2478334	0.90[ASN][1000 genomes]
rs2478335	0.95[ASN][1000 genomes]
rs2478336	0.95[ASN][1000 genomes]
rs2478338	0.85[ASN][1000 genomes]
rs2478339	0.90[ASN][1000 genomes]
rs2478340	0.90[ASN][1000 genomes]
rs2478341	0.90[ASN][1000 genomes]
rs2503428	1.00[ASN][1000 genomes]
rs2503429	0.89[ASN][1000 genomes]
rs2503430	0.89[ASN][1000 genomes]
rs2503443	0.95[ASN][1000 genomes]
rs2503448	0.90[ASN][1000 genomes]
rs2503449	0.90[ASN][1000 genomes]
rs2503450	0.90[ASN][1000 genomes]
rs2503451	0.95[ASN][1000 genomes]
rs2503452	0.95[ASN][1000 genomes]
rs2503453	0.95[ASN][1000 genomes]
rs2503454	0.90[ASN][1000 genomes]
rs73180350	1.00[EUR][1000 genomes]
rs73180351	1.00[EUR][1000 genomes]
rs73180352	1.00[EUR][1000 genomes]
rs73180355	1.00[EUR][1000 genomes]
rs73180366	1.00[EUR][1000 genomes]
rs73183812	1.00[EUR][1000 genomes]
rs73183813	1.00[EUR][1000 genomes]
rs73183880	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3450125	chr13:47919050-48236684	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv455879	chr13:47919611-48190106	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv561588	chr13:47943829-48190106	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1039986	chr13:48081565-48119960	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1043240	chr13:48082916-48119960	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1043473	chr13:48085526-48119960	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv900065	chr13:48106733-48215874	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48114800-48120200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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