Variant report

Variant	rs536058883
Chromosome Location	chr11:45920653-45920654
allele	A/T
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	MXI1	chr11:45920314-45921824	SK-N-SH	brain:	n/a	chr11:45921350-45921365 chr11:45921418-45921433
2	MAZ	chr11:45920310-45921806	IMR90	lung:	n/a	chr11:45921356-45921365
3	REST	chr11:45920538-45922058	U87	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
4	REST	chr11:45920533-45921627	MCF-7	breast:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
5	REST	chr11:45920629-45921752	MCF-7	breast:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
6	REST	chr11:45920483-45921573	PANC-1	pancreas:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
7	REST	chr11:45920646-45921632	H1-hESC	embryonic stem cell:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
8	REST	chr11:45920521-45921327	HCT-116	colon:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
9	REST	chr11:45920559-45921868	H1-neurons	neurons:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
10	REST	chr11:45919930-45921783	PFSK-1	brain:	n/a	chr11:45920383-45920393 chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
11	REST	chr11:45920630-45921622	ECC-1	luminal epithelium:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
12	REST	chr11:45920330-45921531	A549	lung:	n/a	chr11:45920383-45920393 chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
13	REST	chr11:45920627-45921358	HL-60	blood:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
14	REST	chr11:45920645-45921292	PANC-1	pancreas:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
15	REST	chr11:45920343-45921656	HL-60	blood:	n/a	chr11:45920383-45920393 chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
16	REST	chr11:45920635-45921637	A549	lung:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
17	REST	chr11:45920536-45921660	U87	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
18	REST	chr11:45920520-45921773	PFSK-1	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
19	REST	chr11:45920639-45921799	ECC-1	luminal epithelium:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
20	REST	chr11:45920483-45921862	PFSK-1	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
21	JUND	chr11:45920635-45921826	SK-N-SH	brain:	n/a	n/a
22	JUN	chr11:45920615-45921810	K562	blood:	n/a	chr11:45921399-45921412
23	REST	chr11:45920421-45921545	PANC-1	pancreas:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142

No.	Distal block	Cell Line	Cell type
1	chr11:45868921..45870450-chr11:45919310..45922192,2	K562	blood:
2	chr11:45897697..45900039-chr11:45919922..45922515,2	K562	blood:
3	chr11:45911137..45915484-chr11:45918170..45921125,3	MCF-7	breast:
4	chr11:45918756..45920830-chr11:46147616..46150404,2	K562	blood:
5	chr11:45897449..45899197-chr11:45919922..45922462,2	K562	blood:
6	chr11:45920062..45922983-chr11:45935210..45941830,10	K562	blood:
7	chr11:45920093..45922965-chr11:46143378..46145105,2	K562	blood:
8	chr11:45919268..45921220-chr11:46000248..46001826,2	MCF-7	breast:
9	chr11:45904574..45907083-chr11:45920026..45922634,2	MCF-7	breast:

Variant related genes	Relation type
MAPK8IP1	TF binding region
ENSG00000121680	Chromatin interaction
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807609	chr11:45915859-45940195	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3344990	chr11:45920601-45923149	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45907600-45920800	Weak transcription	Right Atrium	heart
2	chr11:45917600-45920800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
3	chr11:45917800-45921000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:45918200-45920800	Enhancers	Brain Angular Gyrus	brain
5	chr11:45918200-45921000	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr11:45918400-45920800	Weak transcription	Liver	Liver
7	chr11:45918600-45921000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:45919000-45920800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr11:45919200-45920800	Weak transcription	Esophagus	oesophagus
10	chr11:45919400-45920800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:45919400-45920800	Weak transcription	Ovary	ovary
12	chr11:45919400-45920800	Enhancers	Hela-S3	cervix
13	chr11:45919400-45921000	Enhancers	Pancreas	Pancrea
14	chr11:45919400-45921000	Enhancers	Spleen	Spleen
15	chr11:45919600-45921000	Enhancers	Right Ventricle	heart
16	chr11:45919800-45920800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:45920200-45920800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:45920200-45921000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:45920200-45921000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:45920200-45921000	Enhancers	Brain Substantia Nigra	brain
21	chr11:45920200-45921000	Enhancers	Placenta	Placenta
22	chr11:45920200-45921000	Enhancers	Gastric	stomach
23	chr11:45920200-45921000	Enhancers	Left Ventricle	heart
24	chr11:45920200-45921200	Enhancers	Fetal Brain Male	brain
25	chr11:45920400-45920800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:45920400-45920800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:45920400-45920800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:45920400-45920800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr11:45920400-45920800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
30	chr11:45920400-45920800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:45920400-45920800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
32	chr11:45920400-45920800	Enhancers	A549	lung
33	chr11:45920400-45921000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:45920400-45921000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:45920400-45921000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr11:45920400-45921000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
37	chr11:45920400-45921000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr11:45920400-45921000	Bivalent Enhancer	Fetal Stomach	stomach
39	chr11:45920400-45921000	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr11:45920400-45921000	Enhancers	K562	blood
41	chr11:45920400-45921200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:45920600-45920800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr11:45920600-45920800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr11:45920600-45920800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr11:45920600-45920800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr11:45920600-45920800	Bivalent Enhancer	Primary B cells from cord blood	blood
47	chr11:45920600-45920800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr11:45920600-45920800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
49	chr11:45920600-45920800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:45920600-45920800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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