Variant report

Variant	rs4254932
Chromosome Location	chr5:95975187-95975188
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10036002	0.84[ASN][1000 genomes]
rs10476555	0.83[ASN][1000 genomes]
rs11958228	0.82[ASN][1000 genomes]
rs11960506	1.00[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.83[ASN][1000 genomes]
rs13354939	0.81[ASN][1000 genomes]
rs13358372	0.83[ASN][1000 genomes]
rs17086432	0.84[ASN][1000 genomes]
rs17086439	0.84[ASN][1000 genomes]
rs17086458	0.90[CHB][hapmap]
rs28708687	0.84[ASN][1000 genomes]
rs4869300	1.00[CHB][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs4869301	0.83[ASN][1000 genomes]
rs4869302	0.83[ASN][1000 genomes]
rs6872489	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes]
rs6880029	0.83[ASN][1000 genomes]
rs6880040	0.83[ASN][1000 genomes]
rs73134563	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95972400-95978800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr5:95974200-95975200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:95974200-95976400	Weak transcription	Fetal Lung	lung
4	chr5:95974400-95975200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:95974400-95977200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:95974600-95976200	Weak transcription	A549	lung
7	chr5:95974800-95975200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:95974800-95977200	Weak transcription	Placenta	Placenta
9	chr5:95974800-95977200	Weak transcription	NHDF-Ad	bronchial
10	chr5:95975000-95980800	Weak transcription	Fetal Kidney	kidney

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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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