Variant report

Variant	rs11748971
Chromosome Location	chr5:124611120-124611121
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	chr5:124608857..124611312-chr5:124615964..124618402,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11740444	0.84[EUR][1000 genomes]
rs13184952	0.88[EUR][1000 genomes]
rs1347924	0.86[EUR][1000 genomes]
rs4835868	0.88[EUR][1000 genomes]
rs6595603	0.85[EUR][1000 genomes]
rs6892733	0.85[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
rs11748971	LMNB1	cis	cerebellum	SCAN

Chromatin state (count:34 , 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	chr5:124604200-124612400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:124605800-124611800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:124608400-124612800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:124608800-124612600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:124609000-124614800	Enhancers	HUVEC	blood vessel
7	chr5:124609200-124612800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:124609200-124613600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:124609400-124611200	Weak transcription	Brain Germinal Matrix	brain
10	chr5:124609600-124613400	Weak transcription	Stomach Mucosa	stomach
11	chr5:124609600-124614200	Enhancers	Hela-S3	cervix
12	chr5:124610000-124611200	Enhancers	NH-A	brain
13	chr5:124610000-124611400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:124610000-124611400	Enhancers	Osteobl	bone
15	chr5:124610000-124612200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:124610000-124612600	Enhancers	HSMMtube	muscle
17	chr5:124610000-124612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:124610000-124613000	Enhancers	Fetal Heart	heart
19	chr5:124610200-124612200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:124610200-124613200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:124610400-124611200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:124610600-124611400	Enhancers	Fetal Kidney	kidney
23	chr5:124610600-124611600	Enhancers	Colon Smooth Muscle	Colon
24	chr5:124610600-124611600	Enhancers	HSMM	muscle
25	chr5:124610600-124611800	Enhancers	Stomach Smooth Muscle	stomach
26	chr5:124610600-124612200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:124610600-124612200	Enhancers	Fetal Stomach	stomach
28	chr5:124610800-124611200	Enhancers	Brain Substantia Nigra	brain
29	chr5:124610800-124611400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:124610800-124611400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:124610800-124611600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:124610800-124611800	Enhancers	Rectal Smooth Muscle	rectum
33	chr5:124611000-124611400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:124611000-124612200	Weak transcription	A549	lung

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