Variant report

Variant	rs56245349
Chromosome Location	chr11:45523244-45523245
allele	C/T
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]
rs56149423	1.00[AMR][1000 genomes]
rs56222915	1.00[AMR][1000 genomes]
rs57272528	1.00[AMR][1000 genomes]
rs57619564	1.00[AMR][1000 genomes]
rs59172361	1.00[AMR][1000 genomes]
rs59913855	1.00[AMR][1000 genomes]
rs60624442	1.00[AMR][1000 genomes]
rs60924591	1.00[AMR][1000 genomes]
rs7110477	1.00[AMR][1000 genomes]
rs7111829	1.00[AMR][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	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv897310	chr11:45487041-45631953	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45521200-45524400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:45521600-45523600	Enhancers	Brain Germinal Matrix	brain
3	chr11:45521600-45524200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:45521600-45524200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr11:45521600-45524200	Enhancers	Fetal Muscle Leg	muscle
6	chr11:45521800-45523800	Enhancers	Fetal Brain Female	brain
7	chr11:45522000-45523800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:45522200-45523800	Enhancers	Fetal Brain Male	brain
9	chr11:45522200-45523800	Enhancers	Right Atrium	heart
10	chr11:45522400-45523600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:45522400-45523800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:45522400-45524400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:45522400-45524400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:45522600-45524000	Enhancers	Fetal Stomach	stomach
15	chr11:45522800-45523800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:45522800-45524000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:45523000-45523400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:45523000-45523600	Enhancers	Fetal Lung	lung
19	chr11:45523000-45523800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:45523000-45524200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr11:45523200-45523400	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr11:45523200-45523400	Bivalent Enhancer	HSMMtube	muscle
23	chr11:45523200-45523800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:45523200-45523800	Enhancers	Left Ventricle	heart
25	chr11:45523200-45523800	Bivalent Enhancer	HepG2	liver

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