Variant report

Variant	rs821746
Chromosome Location	chr5:111657893-111657894
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111654503..111657162-chr5:111657627..111659825,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10039730	1.00[CHB][hapmap]
rs10044406	1.00[CHB][hapmap]
rs10051512	1.00[CHB][hapmap]
rs10060962	1.00[CHB][hapmap]
rs10061025	1.00[CHB][hapmap]
rs10061207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10062045	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10068969	1.00[CHB][hapmap]
rs10068974	1.00[CHB][hapmap]
rs10069608	1.00[CHB][hapmap]
rs10069773	1.00[CHB][hapmap]
rs10071058	1.00[CHB][hapmap]
rs10071862	1.00[CHB][hapmap]
rs10071986	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10072705	1.00[CHB][hapmap]
rs10077774	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10079307	1.00[JPT][hapmap]
rs10463433	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10478083	1.00[CHB][hapmap]
rs10515444	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12187850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13354202	1.00[CHB][hapmap]
rs13354699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1524423	1.00[CHB][hapmap]
rs1524425	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1554624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134319	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs17134321	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17134327	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17134335	0.92[ASN][1000 genomes]
rs17134348	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs17134381	1.00[JPT][hapmap]
rs17134382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17134384	0.84[ASN][1000 genomes]
rs17134423	1.00[JPT][hapmap]
rs17134426	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134429	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134454	1.00[CHB][hapmap]
rs17134478	1.00[CHB][hapmap]
rs17134503	1.00[CHB][hapmap]
rs17134505	1.00[CHB][hapmap]
rs17271934	0.86[CEU][hapmap]
rs1896620	0.87[EUR][1000 genomes]
rs1896621	0.86[EUR][1000 genomes]
rs2416285	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs388383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3985058	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs448714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs55637388	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55639430	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55796748	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55829200	0.90[EUR][1000 genomes]
rs56108405	0.99[EUR][1000 genomes]
rs56293447	0.88[EUR][1000 genomes]
rs57428532	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60636568	0.90[EUR][1000 genomes]
rs61061658	0.87[EUR][1000 genomes]
rs6594588	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs6594590	1.00[JPT][hapmap]
rs6594594	1.00[CHB][hapmap]
rs6594596	1.00[CHB][hapmap]
rs66537821	0.84[ASN][1000 genomes]
rs66892745	0.99[EUR][1000 genomes]
rs67586008	0.99[EUR][1000 genomes]
rs6860402	1.00[CHB][hapmap]
rs6863425	0.84[ASN][1000 genomes]
rs6863610	1.00[CHB][hapmap]
rs6865127	1.00[CHB][hapmap]
rs6865715	1.00[JPT][hapmap]
rs6867914	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6875349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6878092	1.00[CHB][hapmap]
rs6878117	0.93[CEU][hapmap]
rs6878158	1.00[CHB][hapmap]
rs6879906	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6883585	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6883800	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6884339	1.00[JPT][hapmap]
rs6891512	1.00[JPT][hapmap]
rs6893840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6894036	0.86[CEU][hapmap]
rs6894358	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6894365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs721054	1.00[CHB][hapmap]
rs721055	1.00[CHB][hapmap]
rs72781655	0.99[EUR][1000 genomes]
rs72781664	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72781668	0.99[EUR][1000 genomes]
rs72781676	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72781677	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72781678	0.99[EUR][1000 genomes]
rs7702999	1.00[CHB][hapmap]
rs7703875	0.84[ASN][1000 genomes]
rs7706551	1.00[CHB][hapmap]
rs7706737	1.00[CHB][hapmap]
rs7707028	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7709879	1.00[CHB][hapmap]
rs7709963	1.00[CHB][hapmap]
rs7710041	1.00[CHB][hapmap]
rs7710507	1.00[CHB][hapmap]
rs7714258	0.93[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7716246	1.00[JPT][hapmap]
rs7716394	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7722291	0.88[EUR][1000 genomes]
rs7723364	0.84[ASN][1000 genomes]
rs7725728	1.00[CHB][hapmap]
rs7730739	1.00[CHB][hapmap]
rs7733415	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7736305	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7737622	1.00[JPT][hapmap]
rs821736	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs821738	0.93[CEU][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs821739	0.93[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs821749	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9326853	1.00[CHB][hapmap]
rs985873	1.00[CHB][hapmap]
rs986797	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9885182	1.00[CHB][hapmap]
rs9885390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs999243	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs821746	EPB41L4A	cis	Skin Sun Exposed Lower leg	GTEx
rs821746	EPB41L4A	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111650600-111659600	Enhancers	Fetal Heart	heart
3	chr5:111652800-111665200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:111652800-111666800	Weak transcription	Right Ventricle	heart
5	chr5:111652800-111667000	Weak transcription	Esophagus	oesophagus
6	chr5:111653200-111674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:111656800-111658200	Weak transcription	Right Atrium	heart
8	chr5:111657000-111658200	Weak transcription	Left Ventricle	heart
9	chr5:111657000-111665200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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