Variant report

Variant	rs544860441
Chromosome Location	chr11:45920929-45920930
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	REST	chr11:45920711-45921282	H1-hESC	embryonic stem cell:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
2	MXI1	chr11:45920314-45921824	SK-N-SH	brain:	n/a	chr11:45921350-45921365 chr11:45921418-45921433
3	REST	chr11:45920690-45921645	HepG2	liver:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
4	REST	chr11:45920715-45921275	U87	brain:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
5	CREB1	chr11:45920896-45921786	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr11:45920310-45921806	IMR90	lung:	n/a	chr11:45921356-45921365
7	REST	chr11:45920538-45922058	U87	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
8	MYC	chr11:45920922-45921628	K562	blood:	n/a	chr11:45921356-45921365
9	MXI1	chr11:45920877-45921603	GM12878	blood:	n/a	chr11:45921350-45921365 chr11:45921418-45921433
10	ZNF143	chr11:45920861-45921568	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr11:45920533-45921627	MCF-7	breast:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
12	ZBTB7A	chr11:45920884-45921285	K562	blood:	n/a	n/a
13	ZNF143	chr11:45920879-45921184	K562	blood:	n/a	n/a
14	REST	chr11:45920629-45921752	MCF-7	breast:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
15	MXI1	chr11:45920905-45921648	HepG2	liver:	n/a	chr11:45921350-45921365 chr11:45921418-45921433
16	REST	chr11:45920694-45921771	SK-N-SH	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
17	REST	chr11:45920483-45921573	PANC-1	pancreas:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
18	MAZ	chr11:45920894-45921770	K562	blood:	n/a	chr11:45921356-45921365
19	REST	chr11:45920763-45921633	K562	blood:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
20	CHD1	chr11:45920829-45921818	IMR90	lung:	n/a	chr11:45921183-45921193
21	FOXP2	chr11:45920874-45921194	SK-N-MC	brain:	n/a	n/a
22	SIN3AK20	chr11:45920808-45921654	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr11:45920737-45921442	HepG2	liver:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
24	REST	chr11:45920646-45921632	H1-hESC	embryonic stem cell:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
25	ATF2	chr11:45920751-45921633	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr11:45920812-45921780	H1-hESC	embryonic stem cell:	n/a	chr11:45921356-45921365
27	REST	chr11:45920521-45921327	HCT-116	colon:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
28	MAX	chr11:45920860-45921745	MCF-7	breast:	n/a	chr11:45921356-45921365
29	MAX	chr11:45920890-45921776	K562	blood:	n/a	chr11:45921356-45921365
30	REST	chr11:45920879-45921185	SK-N-SH	brain:	n/a	chr11:45921129-45921142
31	REST	chr11:45920781-45921284	HepG2	liver:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
32	REST	chr11:45920559-45921868	H1-neurons	neurons:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
33	SIN3AK20	chr11:45920878-45921196	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr11:45920897-45921768	K562	blood:	n/a	n/a
35	CHD2	chr11:45920898-45921565	H1-hESC	embryonic stem cell:	n/a	chr11:45921183-45921193
36	SIN3AK20	chr11:45920902-45921279	K562	blood:	n/a	n/a
37	REST	chr11:45919930-45921783	PFSK-1	brain:	n/a	chr11:45920383-45920393 chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
38	RCOR1	chr11:45920884-45921590	K562	blood:	n/a	n/a
39	REST	chr11:45920630-45921622	ECC-1	luminal epithelium:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
40	TAF1	chr11:45920827-45921311	H1-neurons	neurons:	n/a	n/a
41	RCOR1	chr11:45920900-45921539	HepG2	liver:	n/a	n/a
42	ZBTB7A	chr11:45920864-45921792	ECC-1	luminal epithelium:	n/a	chr11:45921340-45921351
43	REST	chr11:45920905-45921177	GM12878	blood:	n/a	chr11:45921129-45921142
44	REST	chr11:45920330-45921531	A549	lung:	n/a	chr11:45920383-45920393 chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
45	REST	chr11:45920698-45921568	PANC-1	pancreas:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
46	REST	chr11:45920720-45921373	HCT-116	colon:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
47	ATF2	chr11:45920836-45921630	H1-hESC	embryonic stem cell:	n/a	n/a
48	REST	chr11:45920787-45921227	PFSK-1	brain:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
49	REST	chr11:45920901-45921601	K562	blood:	n/a	chr11:45921444-45921457 chr11:45921129-45921142
50	SP1	chr11:45920781-45921762	H1-hESC	embryonic stem cell:	n/a	chr11:45921189-45921203 chr11:45921188-45921200 chr11:45921189-45921199 chr11:45921189-45921198 chr11:45921299-45921313 chr11:45920806-45920820 chr11:45921188-45921200 chr11:45921190-45921199

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	chr11:45897449..45899197-chr11:45919922..45922462,2	K562	blood:
5	chr11:45920062..45922983-chr11:45935210..45941830,10	K562	blood:
6	chr11:45920093..45922965-chr11:46143378..46145105,2	K562	blood:
7	chr11:45919268..45921220-chr11:46000248..46001826,2	MCF-7	breast:
8	chr11:45904574..45907083-chr11:45920026..45922634,2	MCF-7	breast:

Variant related genes	Relation type
MAPK8IP1	TF binding region
ENSG00000121671	Chromatin interaction
ENSG00000121680	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45917800-45921000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:45918200-45921000	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr11:45918600-45921000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:45919400-45921000	Enhancers	Pancreas	Pancrea
5	chr11:45919400-45921000	Enhancers	Spleen	Spleen
6	chr11:45919600-45921000	Enhancers	Right Ventricle	heart
7	chr11:45920200-45921000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:45920200-45921000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:45920200-45921000	Enhancers	Brain Substantia Nigra	brain
10	chr11:45920200-45921000	Enhancers	Placenta	Placenta
11	chr11:45920200-45921000	Enhancers	Gastric	stomach
12	chr11:45920200-45921000	Enhancers	Left Ventricle	heart
13	chr11:45920200-45921200	Enhancers	Fetal Brain Male	brain
14	chr11:45920400-45921000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:45920400-45921000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:45920400-45921000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr11:45920400-45921000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
18	chr11:45920400-45921000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr11:45920400-45921000	Bivalent Enhancer	Fetal Stomach	stomach
20	chr11:45920400-45921000	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr11:45920400-45921000	Enhancers	K562	blood
22	chr11:45920400-45921200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:45920600-45921000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:45920600-45921000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:45920600-45921000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:45920600-45921000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:45920600-45921000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
28	chr11:45920600-45921000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:45920600-45921000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
30	chr11:45920600-45921000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr11:45920600-45921000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:45920600-45921000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:45920600-45921000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:45920600-45921000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
35	chr11:45920600-45921000	Bivalent Enhancer	Fetal Intestine Large	intestine
36	chr11:45920600-45921000	Enhancers	Fetal Kidney	kidney
37	chr11:45920600-45921000	Enhancers	Fetal Lung	lung
38	chr11:45920600-45921000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
39	chr11:45920600-45921000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr11:45920600-45921000	Bivalent Enhancer	HepG2	liver
41	chr11:45920600-45921000	Enhancers	HUVEC	blood vessel
42	chr11:45920600-45921000	Enhancers	NH-A	brain
43	chr11:45920600-45921000	Enhancers	NHLF	lung
44	chr11:45920600-45921200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:45920600-45921200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:45920600-45921200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr11:45920600-45921200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:45920600-45921200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr11:45920600-45921200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:45920600-45921200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood

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