Variant report

Variant	rs533409564
Chromosome Location	chr11:24518079-24518080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr11:24517887-24519074	H1-hESC	embryonic stem cell:	n/a	chr11:24517970-24517979 chr11:24518886-24518899 chr11:24518623-24518632
2	POLR2A	chr11:24517880-24519103	H1-neurons	neurons:	n/a	n/a
3	RAD21	chr11:24518025-24518845	IMR90	lung:	n/a	n/a
4	MAX	chr11:24518079-24518958	H1-hESC	embryonic stem cell:	n/a	chr11:24518489-24518499
5	REST	chr11:24517861-24519541	H1-neurons	neurons:	n/a	chr11:24518976-24518983 chr11:24518703-24518712
6	MAZ	chr11:24517782-24518819	IMR90	lung:	n/a	chr11:24518489-24518499
7	MAFK	chr11:24517998-24518422	IMR90	lung:	n/a	n/a
8	RAD21	chr11:24517881-24519463	SK-N-SH	brain:	n/a	chr11:24517948-24517957 chr11:24519038-24519048 chr11:24519037-24519050
9	POLR2A	chr11:24517952-24519162	H1-neurons	neurons:	n/a	n/a
10	MAFK	chr11:24518078-24518251	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
LUZP2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055026	chr11:24151133-24737122	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1037744	chr11:24174588-24737122	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv467755	chr11:24407381-24527958	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv553791	chr11:24407381-24527958	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv897088	chr11:24419481-24543475	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv553794	chr11:24435202-24537624	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1837793	chr11:24443570-24527958	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv897089	chr11:24477706-24545353	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv553819	chr11:24499370-24545353	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv469945	chr11:24515523-24545353	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24517200-24518800	Active TSS	Brain Angular Gyrus	brain
2	chr11:24517200-24519200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:24517200-24519600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
4	chr11:24517400-24518600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:24517400-24520000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr11:24517600-24519400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:24517800-24518200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:24517800-24518200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr11:24517800-24518200	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr11:24517800-24518200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr11:24517800-24518200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
12	chr11:24517800-24518200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
13	chr11:24517800-24518200	Active TSS	Fetal Stomach	stomach
14	chr11:24517800-24518200	Bivalent/Poised TSS	NHDF-Ad	bronchial
15	chr11:24517800-24518400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:24517800-24518400	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr11:24517800-24518400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
18	chr11:24517800-24518800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:24517800-24518800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
20	chr11:24517800-24519000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:24517800-24519000	Bivalent/Poised TSS	NHLF	lung
22	chr11:24517800-24519200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:24517800-24519200	Active TSS	Right Ventricle	heart
24	chr11:24517800-24519400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:24517800-24519400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:24517800-24519400	Active TSS	Brain Cingulate Gyrus	brain
27	chr11:24517800-24519400	Bivalent/Poised TSS	NH-A	brain
28	chr11:24517800-24519600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:24517800-24519600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:24517800-24519600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:24517800-24519800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr11:24517800-24519800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr11:24517800-24520200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:24518000-24518200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:24518000-24518200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:24518000-24518200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
37	chr11:24518000-24518200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:24518000-24518200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:24518000-24518200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
40	chr11:24518000-24518200	Bivalent Enhancer	Liver	Liver
41	chr11:24518000-24518200	Enhancers	Gastric	stomach
42	chr11:24518000-24518200	Enhancers	Ovary	ovary
43	chr11:24518000-24518200	Enhancers	Pancreas	Pancrea
44	chr11:24518000-24518200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:24518000-24518200	Active TSS	HSMMtube	muscle
46	chr11:24518000-24518400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:24518000-24518400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:24518000-24518400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:24518000-24518400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:24518000-24518400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain

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