Variant report

Variant	rs821739
Chromosome Location	chr5:111663121-111663122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10061207	1.00[JPT][hapmap]
rs10062045	1.00[JPT][hapmap]
rs10071986	1.00[JPT][hapmap]
rs10072705	1.00[CHB][hapmap]
rs10077774	1.00[JPT][hapmap]
rs10079307	1.00[JPT][hapmap]
rs10463433	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs10515444	1.00[JPT][hapmap]
rs11241160	0.83[EUR][1000 genomes]
rs12187589	0.82[EUR][1000 genomes]
rs12187787	0.87[CEU][hapmap]
rs12187850	0.93[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13354699	1.00[JPT][hapmap]
rs1524425	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs1554624	0.93[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17134319	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs17134321	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17134327	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs17134348	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs17134357	0.92[ASN][1000 genomes]
rs17134381	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134382	1.00[JPT][hapmap]
rs17134423	1.00[JPT][hapmap]
rs17134426	1.00[JPT][hapmap]
rs17134429	1.00[JPT][hapmap]
rs17271934	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs17345175	0.86[CEU][hapmap]
rs1896620	0.98[EUR][1000 genomes]
rs1896621	0.96[EUR][1000 genomes]
rs2416285	1.00[JPT][hapmap]
rs388383	1.00[JPT][hapmap]
rs3985058	1.00[JPT][hapmap]
rs4479888	0.81[AFR][1000 genomes]
rs448714	1.00[JPT][hapmap]
rs55637388	0.88[EUR][1000 genomes]
rs55639430	0.88[EUR][1000 genomes]
rs55796748	0.88[EUR][1000 genomes]
rs55829200	0.80[EUR][1000 genomes]
rs55845736	0.83[EUR][1000 genomes]
rs56108405	0.88[EUR][1000 genomes]
rs56293447	0.99[EUR][1000 genomes]
rs56307310	0.82[EUR][1000 genomes]
rs57428532	0.88[EUR][1000 genomes]
rs60636568	0.80[EUR][1000 genomes]
rs61061658	0.98[EUR][1000 genomes]
rs6594585	0.82[YRI][hapmap]
rs6594588	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs6594590	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs66521031	0.81[EUR][1000 genomes]
rs66892745	0.88[EUR][1000 genomes]
rs67033649	0.82[EUR][1000 genomes]
rs67586008	0.88[EUR][1000 genomes]
rs6865715	1.00[JPT][hapmap]
rs6867914	1.00[JPT][hapmap]
rs6875349	1.00[JPT][hapmap]
rs6878117	0.81[CEU][hapmap]
rs6879906	1.00[JPT][hapmap]
rs6883585	1.00[JPT][hapmap]
rs6883800	1.00[JPT][hapmap]
rs6884339	1.00[JPT][hapmap]
rs6891512	1.00[JPT][hapmap]
rs6893840	1.00[JPT][hapmap]
rs6894036	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs6894358	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894365	1.00[JPT][hapmap]
rs72781655	0.88[EUR][1000 genomes]
rs72781664	0.88[EUR][1000 genomes]
rs72781668	0.88[EUR][1000 genomes]
rs72781676	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72781677	0.88[EUR][1000 genomes]
rs72781678	0.88[EUR][1000 genomes]
rs72783609	0.82[EUR][1000 genomes]
rs7703875	0.84[ASN][1000 genomes]
rs7706772	0.82[YRI][hapmap]
rs7707028	1.00[JPT][hapmap]
rs7714258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7716246	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7716394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7722291	0.99[EUR][1000 genomes]
rs7723364	0.84[ASN][1000 genomes]
rs7733415	1.00[JPT][hapmap]
rs7736305	1.00[JPT][hapmap]
rs7737622	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs821736	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs821738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821746	0.93[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs821749	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs986797	1.00[JPT][hapmap]
rs9885390	1.00[JPT][hapmap]
rs999243	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv980994	chr5:111660029-111665860	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs821739	EPB41L4A	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111652800-111665200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:111652800-111666800	Weak transcription	Right Ventricle	heart
4	chr5:111652800-111667000	Weak transcription	Esophagus	oesophagus
5	chr5:111653200-111674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:111657000-111665200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:111658600-111665400	Weak transcription	Lung	lung
8	chr5:111658600-111666800	Weak transcription	Left Ventricle	heart
9	chr5:111659200-111668800	Weak transcription	Pancreas	Pancrea
10	chr5:111661400-111669000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:111661600-111664200	Weak transcription	Fetal Heart	heart

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