Variant report

Variant	rs72781676
Chromosome Location	chr5:111646481-111646482
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10463433	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12187850	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1524425	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1554624	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134319	1.00[EUR][1000 genomes]
rs17134321	0.92[EUR][1000 genomes]
rs17134327	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134335	0.92[ASN][1000 genomes]
rs17134348	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134382	0.84[ASN][1000 genomes]
rs17134384	0.84[ASN][1000 genomes]
rs1896620	0.86[EUR][1000 genomes]
rs1896621	0.87[EUR][1000 genomes]
rs388383	0.84[ASN][1000 genomes]
rs448714	0.84[ASN][1000 genomes]
rs55637388	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55639430	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55796748	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55829200	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56108405	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56293447	0.89[EUR][1000 genomes]
rs57428532	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60636568	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61061658	0.86[EUR][1000 genomes]
rs6594588	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66537821	0.84[ASN][1000 genomes]
rs66892745	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67586008	1.00[EUR][1000 genomes]
rs6863425	0.84[ASN][1000 genomes]
rs6875349	0.92[ASN][1000 genomes]
rs6893840	0.84[ASN][1000 genomes]
rs6894358	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6894365	0.84[ASN][1000 genomes]
rs72781655	1.00[EUR][1000 genomes]
rs72781664	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72781668	1.00[EUR][1000 genomes]
rs72781677	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72781678	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7703875	0.84[ASN][1000 genomes]
rs7714258	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7716394	0.85[ASN][1000 genomes]
rs7722291	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7723364	0.84[ASN][1000 genomes]
rs821736	0.87[EUR][1000 genomes]
rs821738	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs821739	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs821746	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821749	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72781676	EPB41L4A	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111635600-111651800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
3	chr5:111639800-111652400	Weak transcription	Left Ventricle	heart
4	chr5:111640200-111656400	Weak transcription	Psoas Muscle	Psoas
5	chr5:111642200-111650800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:111643200-111652000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:111644800-111646600	Enhancers	Fetal Heart	heart
8	chr5:111644800-111648400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:111645000-111646600	Weak transcription	Hela-S3	cervix
10	chr5:111645400-111646600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:111645800-111646600	Weak transcription	Right Atrium	heart

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