Variant report

Variant	rs16874572
Chromosome Location	chr5:5017484-5017485
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11740193	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745073	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748324	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168732	1.00[JPT][hapmap]
rs16874586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171610	0.87[ASN][1000 genomes]
rs181823	0.87[AFR][1000 genomes]
rs249466	1.00[JPT][hapmap]
rs273371	1.00[JPT][hapmap]
rs460228	0.87[ASN][1000 genomes]
rs467075	0.93[ASN][1000 genomes]
rs733500	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv880436	chr5:4982643-5038540	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5015600-5017600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:5015600-5018000	Weak transcription	HSMMtube	muscle
3	chr5:5015600-5018600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:5015800-5017600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:5015800-5017600	Weak transcription	NH-A	brain
6	chr5:5015800-5017800	Weak transcription	Osteobl	bone
7	chr5:5015800-5018000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:5015800-5018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:5015800-5018200	Weak transcription	HSMM	muscle
10	chr5:5015800-5018600	Weak transcription	HMEC	breast
11	chr5:5015800-5021000	Weak transcription	Fetal Brain Male	brain
12	chr5:5016000-5018000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:5016200-5018000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:5016400-5018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:5017400-5020000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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