Variant report

Variant	rs7334218
Chromosome Location	chr13:49110700-49110701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56155028	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57026972	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61179834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7322788	0.82[AFR][1000 genomes]
rs7330657	1.00[MEX][hapmap]
rs7334197	1.00[MEX][hapmap]
rs73486808	0.82[AFR][1000 genomes]
rs9331951	1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[AFR][1000 genomes]
rs9331972	1.00[MEX][hapmap]
rs9331981	0.82[AFR][1000 genomes]
rs9331989	0.91[LWK][hapmap];1.00[MEX][hapmap]
rs9331995	1.00[LWK][hapmap];1.00[MEX][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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr13:49107200-49110800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr13:49107800-49110800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr13:49107800-49116200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:49107800-49116200	Weak transcription	Left Ventricle	heart
5	chr13:49107800-49116200	Weak transcription	Right Atrium	heart
6	chr13:49107800-49116200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr13:49107800-49116400	Weak transcription	Lung	lung
8	chr13:49107800-49116800	Weak transcription	Pancreas	Pancrea
9	chr13:49108000-49116600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr13:49108200-49111000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:49108400-49116400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr13:49108600-49111400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr13:49110200-49112400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:49110400-49110800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:49110400-49111200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:49110400-49112600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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