Variant report

Variant	rs13184952
Chromosome Location	chr5:124612485-124612486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11241799	0.82[EUR][1000 genomes]
rs11740444	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11748971	0.88[EUR][1000 genomes]
rs13176117	0.81[EUR][1000 genomes]
rs13186616	0.81[EUR][1000 genomes]
rs1347924	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17152498	1.00[JPT][hapmap]
rs17152511	1.00[JPT][hapmap]
rs34584680	0.82[EUR][1000 genomes]
rs34871761	0.82[EUR][1000 genomes]
rs4835868	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595603	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6892733	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882823	chr5:124569471-124639468	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13184952	LMNB1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124599800-124613400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:124608400-124612800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:124608800-124612600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:124609000-124614800	Enhancers	HUVEC	blood vessel
5	chr5:124609200-124612800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:124609200-124613600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:124609600-124613400	Weak transcription	Stomach Mucosa	stomach
8	chr5:124609600-124614200	Enhancers	Hela-S3	cervix
9	chr5:124610000-124612600	Enhancers	HSMMtube	muscle
10	chr5:124610000-124612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:124610000-124613000	Enhancers	Fetal Heart	heart
12	chr5:124610200-124613200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:124611200-124612600	Weak transcription	NH-A	brain
14	chr5:124611200-124613000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:124611400-124612600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:124611400-124612800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr5:124611400-124613000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:124611400-124613000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:124611400-124613200	Weak transcription	Osteobl	bone
20	chr5:124611600-124612800	Weak transcription	HSMM	muscle
21	chr5:124611600-124617200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:124611600-124617200	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:124611800-124617200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:124612000-124612600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:124612200-124612600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:124612200-124614200	Enhancers	A549	lung
27	chr5:124612400-124614200	Enhancers	HMEC	breast
28	chr5:124612400-124614400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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