Variant report

Variant	rs7726811
Chromosome Location	chr5:42460088-42460089
allele	C/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:16)

rs_ID	r²[population]
rs11949415	1.00[AMR][1000 genomes]
rs11954925	1.00[AMR][1000 genomes]
rs1509459	1.00[AMR][1000 genomes]
rs16872562	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16872586	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4346776	1.00[AMR][1000 genomes]
rs6871782	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6878694	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs6885346	1.00[AMR][1000 genomes]
rs7702407	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7702961	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7709329	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7718944	1.00[AMR][1000 genomes]
rs7730534	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7731927	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7737776	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42450000-42466800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:42454800-42471800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:42455000-42461200	Weak transcription	Right Atrium	heart
4	chr5:42455000-42469600	Weak transcription	Lung	lung
5	chr5:42455000-42474400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:42455000-42477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:42455200-42461600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:42457400-42461200	Weak transcription	Left Ventricle	heart
9	chr5:42458600-42461600	Weak transcription	Fetal Lung	lung
10	chr5:42459200-42461200	Weak transcription	Adipose Nuclei	Adipose
11	chr5:42460000-42460400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:42460000-42460600	Enhancers	Psoas Muscle	Psoas
13	chr5:42460000-42462200	Enhancers	Fetal Intestine Small	intestine

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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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