Variant report

Variant	rs190922336
Chromosome Location	chr11:45921207-45921208
allele	C/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	MAX	chr11:45920935-45921715	K562	blood:	n/a	chr11:45921356-45921365
2	REST	chr11:45920711-45921282	H1-hESC	embryonic stem cell:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
3	JUND	chr11:45920950-45921752	H1-hESC	embryonic stem cell:	n/a	n/a
4	SRF	chr11:45921205-45921712	ECC-1	luminal epithelium:	n/a	n/a
5	MXI1	chr11:45920314-45921824	SK-N-SH	brain:	n/a	chr11:45921350-45921365 chr11:45921418-45921433
6	REST	chr11:45920690-45921645	HepG2	liver:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
7	GTF2F1	chr11:45920941-45921433	Hela-S3	cervix:	n/a	n/a
8	SP1	chr11:45921100-45921778	A549	lung:	n/a	chr11:45921189-45921203 chr11:45921188-45921200 chr11:45921189-45921199 chr11:45921189-45921198 chr11:45921299-45921313 chr11:45921188-45921200 chr11:45921190-45921199
9	REST	chr11:45920715-45921275	U87	brain:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
10	CREB1	chr11:45920896-45921786	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr11:45920310-45921806	IMR90	lung:	n/a	chr11:45921356-45921365
12	REST	chr11:45920538-45922058	U87	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
13	ZBTB7A	chr11:45921037-45921622	K562	blood:	n/a	chr11:45921340-45921351
14	MYC	chr11:45920922-45921628	K562	blood:	n/a	chr11:45921356-45921365
15	MXI1	chr11:45920877-45921603	GM12878	blood:	n/a	chr11:45921350-45921365 chr11:45921418-45921433
16	ZNF143	chr11:45920861-45921568	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr11:45920533-45921627	MCF-7	breast:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
18	ZBTB7A	chr11:45920884-45921285	K562	blood:	n/a	n/a
19	REST	chr11:45920629-45921752	MCF-7	breast:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
20	MXI1	chr11:45920905-45921648	HepG2	liver:	n/a	chr11:45921350-45921365 chr11:45921418-45921433
21	REST	chr11:45920694-45921771	SK-N-SH	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
22	JUND	chr11:45921191-45921717	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr11:45920483-45921573	PANC-1	pancreas:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
24	MAZ	chr11:45920894-45921770	K562	blood:	n/a	chr11:45921356-45921365
25	REST	chr11:45920763-45921633	K562	blood:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
26	CHD1	chr11:45920829-45921818	IMR90	lung:	n/a	chr11:45921183-45921193
27	SIN3AK20	chr11:45920808-45921654	H1-hESC	embryonic stem cell:	n/a	n/a
28	BHLHE40	chr11:45921011-45921713	K562	blood:	n/a	n/a
29	REST	chr11:45920737-45921442	HepG2	liver:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
30	ATF3	chr11:45921125-45921680	K562	blood:	n/a	chr11:45921401-45921414
31	JUN	chr11:45921001-45921590	H1-hESC	embryonic stem cell:	n/a	chr11:45921399-45921412
32	REST	chr11:45920646-45921632	H1-hESC	embryonic stem cell:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
33	ATF2	chr11:45920751-45921633	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr11:45920812-45921780	H1-hESC	embryonic stem cell:	n/a	chr11:45921356-45921365
35	ELK1	chr11:45921101-45921241	K562	blood:	n/a	n/a
36	REST	chr11:45920521-45921327	HCT-116	colon:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
37	MAX	chr11:45920860-45921745	MCF-7	breast:	n/a	chr11:45921356-45921365
38	MAX	chr11:45920890-45921776	K562	blood:	n/a	chr11:45921356-45921365
39	GATA3	chr11:45921127-45921853	A549	lung:	n/a	n/a
40	REST	chr11:45920781-45921284	HepG2	liver:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
41	REST	chr11:45920559-45921868	H1-neurons	neurons:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
42	JUND	chr11:45920897-45921768	K562	blood:	n/a	n/a
43	CEBPB	chr11:45921058-45921568	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr11:45920898-45921565	H1-hESC	embryonic stem cell:	n/a	chr11:45921183-45921193
45	SIN3AK20	chr11:45920902-45921279	K562	blood:	n/a	n/a
46	REST	chr11:45919930-45921783	PFSK-1	brain:	n/a	chr11:45920383-45920393 chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
47	RCOR1	chr11:45920884-45921590	K562	blood:	n/a	n/a
48	RFX5	chr11:45921121-45921537	HepG2	liver:	n/a	chr11:45921417-45921430 chr11:45921417-45921432 chr11:45921350-45921367 chr11:45921415-45921429 chr11:45921351-45921366 chr11:45921417-45921432 chr11:45921356-45921365 chr11:45921417-45921432 chr11:45921354-45921368 chr11:45921351-45921366 chr11:45921418-45921427
49	REST	chr11:45920630-45921622	ECC-1	luminal epithelium:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
50	TAF1	chr11:45920827-45921311	H1-neurons	neurons:	n/a	n/a

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	chr1:198127987..198130106-chr11:45920994..45922551,2	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	chr11:45920600-45921400	Bivalent Enhancer	Fetal Thymus	thymus
2	chr11:45920800-45921400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:45920800-45921400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:45920800-45921400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
5	chr11:45920800-45921400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:45920800-45921400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr11:45920800-45921400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
8	chr11:45920800-45921400	Flanking Active TSS	Hela-S3	cervix
9	chr11:45920800-45921600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
10	chr11:45920800-45921600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:45920800-45921600	Enhancers	Fetal Heart	heart
12	chr11:45920800-45921600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
13	chr11:45920800-45921600	Flanking Bivalent TSS/Enh	Thymus	Thymus
14	chr11:45920800-45922800	Enhancers	Liver	Liver
15	chr11:45921000-45921400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:45921000-45921400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
17	chr11:45921000-45921400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
18	chr11:45921000-45921400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
19	chr11:45921000-45921400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr11:45921000-45921400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:45921000-45921400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr11:45921000-45921400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr11:45921000-45921400	Flanking Active TSS	Placenta	Placenta
24	chr11:45921000-45921400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
25	chr11:45921000-45921600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:45921000-45921600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:45921000-45921600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:45921000-45921600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:45921000-45922000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr11:45921000-45922000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:45921000-45922000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:45921000-45922000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr11:45921000-45922000	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:45921000-45922000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:45921000-45922000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:45921000-45922000	Active TSS	Stomach Smooth Muscle	stomach
37	chr11:45921000-45922200	Active TSS	H1 Cell Line	embryonic stem cell
38	chr11:45921000-45922200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:45921000-45922200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:45921000-45922200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:45921000-45922200	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr11:45921000-45922200	Active TSS	Aorta	Aorta
43	chr11:45921000-45922400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:45921000-45922400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:45921000-45922600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr11:45921000-45922600	Active TSS	Fetal Kidney	kidney
47	chr11:45921000-45922600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
48	chr11:45921000-45923000	Active TSS	Brain Angular Gyrus	brain
49	chr11:45921000-45923000	Active TSS	Brain Substantia Nigra	brain
50	chr11:45921000-45923200	Active TSS	Pancreatic Islets	Pancreatic Islet

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