Variant report

Variant	rs13154524
Chromosome Location	chr5:111890072-111890073
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111886306..111888838-chr5:111889426..111891005,2	K562	blood:
2	chr5:111887498..111890102-chr5:112044744..112046649,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11745418	0.80[JPT][hapmap]
rs1445935	0.80[JPT][hapmap]
rs4574588	0.81[ASN][1000 genomes]
rs7443518	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13154524	VTRNA1-1	trans	lymphoblastoid	seeQTL
rs13154524	EPB41L4A	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111884400-111890200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:111886400-111891800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:111887600-111890200	Weak transcription	Fetal Brain Female	brain
4	chr5:111887800-111890800	Weak transcription	Fetal Heart	heart
5	chr5:111888000-111891200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:111889400-111891200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:111889600-111890200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr5:111889600-111891000	Enhancers	Fetal Muscle Leg	muscle
9	chr5:111889600-111891200	Enhancers	Brain Germinal Matrix	brain
10	chr5:111889800-111890200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:111889800-111890200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:111889800-111890200	Enhancers	Left Ventricle	heart
13	chr5:111889800-111890600	Enhancers	Fetal Brain Male	brain
14	chr5:111889800-111892200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:111890000-111890200	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr5:111890000-111890200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr5:111890000-111890200	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr5:111890000-111890200	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr5:111890000-111890200	Enhancers	Ovary	ovary
20	chr5:111890000-111890200	Flanking Active TSS	Osteobl	bone
21	chr5:111890000-111890400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:111890000-111890400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr5:111890000-111890400	Flanking Active TSS	NHDF-Ad	bronchial
24	chr5:111890000-111890600	Active TSS	Adipose Nuclei	Adipose
25	chr5:111890000-111890600	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr5:111890000-111890800	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr5:111890000-111891400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:111890000-111892000	Enhancers	NHLF	lung

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