Variant report

Variant	rs13114469
Chromosome Location	chr4:48301237-48301238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10454242	0.93[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12500187	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12504870	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12507853	0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs1355218	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17574819	1.00[JPT][hapmap]
rs17574847	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2457412	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2664030	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2704391	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs35602964	0.82[ASN][1000 genomes]
rs4694891	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6814786	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7669018	0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs9996158	0.86[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv967292	chr4:48301224-48303037	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48298800-48301400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:48299800-48301600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:48300400-48309800	Weak transcription	Fetal Brain Male	brain
4	chr4:48301200-48302200	Enhancers	Osteobl	bone
5	chr4:48301200-48302600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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