Variant report

Variant	rs4269327
Chromosome Location	chr5:111891169-111891170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10072379	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241172	0.83[ASN][1000 genomes]
rs11747636	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171792	0.87[EUR][1000 genomes]
rs13176097	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455608	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6594613	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7378714	0.81[ASN][1000 genomes]
rs7701118	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7703562	0.85[EUR][1000 genomes];1.00[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111886400-111891800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:111888000-111891200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:111889400-111891200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:111889600-111891200	Enhancers	Brain Germinal Matrix	brain
5	chr5:111889800-111892200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:111890000-111891400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:111890000-111892000	Enhancers	NHLF	lung
8	chr5:111890200-111891200	Weak transcription	Left Ventricle	heart
9	chr5:111890200-111891400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:111890200-111891800	Enhancers	HSMMtube	muscle
11	chr5:111890600-111891200	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr5:111890600-111891400	Enhancers	Adipose Nuclei	Adipose
13	chr5:111890600-111891400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:111890600-111891600	Enhancers	Brain Hippocampus Middle	brain
15	chr5:111890600-111891800	Enhancers	Brain Cingulate Gyrus	brain
16	chr5:111890800-111891400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:111890800-111891400	Enhancers	Brain Substantia Nigra	brain
18	chr5:111890800-111891400	Weak transcription	Fetal Brain Female	brain
19	chr5:111890800-111891600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:111890800-111891600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:111890800-111891600	Enhancers	Osteobl	bone
22	chr5:111890800-111892200	Enhancers	HSMM	muscle
23	chr5:111891000-111891200	Enhancers	Aorta	Aorta
24	chr5:111891000-111891400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr5:111891000-111891600	Enhancers	Brain Angular Gyrus	brain
26	chr5:111891000-111891800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:111891000-111892200	Weak transcription	Fetal Heart	heart
28	chr5:111891000-111892200	Enhancers	NHDF-Ad	bronchial

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