Variant report

Variant	rs13430592
Chromosome Location	chr2:56703719-56703720
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10167140	0.82[EUR][1000 genomes]
rs10174072	0.94[EUR][1000 genomes]
rs10185338	0.82[EUR][1000 genomes]
rs10206333	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209533	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1030329	0.82[EUR][1000 genomes]
rs1030331	0.82[EUR][1000 genomes]
rs1030332	0.82[EUR][1000 genomes]
rs12328196	0.82[EUR][1000 genomes]
rs12329032	0.85[EUR][1000 genomes]
rs12467587	0.82[EUR][1000 genomes]
rs12475721	0.82[EUR][1000 genomes]
rs12477024	0.82[EUR][1000 genomes]
rs13387787	0.82[EUR][1000 genomes]
rs13391512	0.82[EUR][1000 genomes]
rs13403280	0.82[EUR][1000 genomes]
rs13416950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418520	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17047975	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4672124	0.82[EUR][1000 genomes]
rs4672125	0.82[EUR][1000 genomes]
rs4672126	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv874172	chr2:56638856-56811749	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2757800	chr2:56659685-56851198	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2759052	chr2:56659685-56851198	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2752438	chr2:56700945-56788111	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv874173	chr2:56702495-56761626	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv874174	chr2:56702495-56761998	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv582049	chr2:56702495-56787100	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv582050	chr2:56702495-56854346	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56701400-56704000	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr2:56702200-56703800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:56702200-56703800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:56702800-56704000	Weak transcription	Liver	Liver
5	chr2:56703400-56704000	Weak transcription	Adipose Nuclei	Adipose
6	chr2:56703400-56704000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:56703600-56704000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:56703600-56704000	Enhancers	Fetal Heart	heart
9	chr2:56703600-56704000	Enhancers	Psoas Muscle	Psoas
10	chr2:56703600-56704200	Enhancers	Left Ventricle	heart
11	chr2:56703600-56704800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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