Variant report

Variant	rs1524425
Chromosome Location	chr5:111630030-111630031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111629073..111631228-chr5:111635645..111639350,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10061888	0.83[ASN][1000 genomes]
rs10463433	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12187850	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1554624	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17134319	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17134321	0.93[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17134327	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134348	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17271934	0.86[CEU][hapmap]
rs1896620	0.86[EUR][1000 genomes]
rs1896621	0.87[EUR][1000 genomes]
rs55637388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56108405	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56293447	0.89[EUR][1000 genomes]
rs57428532	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60636568	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61061658	0.86[EUR][1000 genomes]
rs6594588	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66892745	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67586008	1.00[EUR][1000 genomes]
rs6878117	0.86[CEU][hapmap]
rs6894036	0.86[CEU][hapmap]
rs6894358	0.89[EUR][1000 genomes]
rs72781655	1.00[EUR][1000 genomes]
rs72781664	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72781668	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72781676	0.95[AMR][1000 genomes];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]
rs7714258	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs7716394	0.92[CEU][hapmap]
rs7722291	0.89[EUR][1000 genomes]
rs821736	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs821738	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs821739	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs821746	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs821749	1.00[CEU][hapmap];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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1524425	EPB41L4A	cis	Adipose Subcutaneous	GTEx
rs1524425	EPB41L4A	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111628800-111631600	Enhancers	Fetal Heart	heart
2	chr5:111629200-111630200	Enhancers	Brain Hippocampus Middle	brain
3	chr5:111629400-111630200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:111629400-111630600	Enhancers	Right Atrium	heart
5	chr5:111629600-111630400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:111629600-111631000	Enhancers	Left Ventricle	heart
7	chr5:111629600-111631000	Enhancers	Right Ventricle	heart
8	chr5:111630000-111630200	Enhancers	Gastric	stomach
9	chr5:111630000-111630400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:111630000-111630400	Enhancers	Brain Anterior Caudate	brain
11	chr5:111630000-111630600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:111630000-111631000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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