Variant report

Variant	rs1799732
Chromosome Location	chr11:113346251-113346252
allele	-/C
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	chr11:113345947-113346275	H1-hESC	embryonic stem cell:	n/a	chr11:113345968-113345981 chr11:113346219-113346227 chr11:113346127-113346136
2	REST	chr11:113345980-113346485	PANC-1	pancreas:	n/a	chr11:113346219-113346227 chr11:113346127-113346136
3	REST	chr11:113345908-113346354	ECC-1	luminal epithelium:	n/a	chr11:113345968-113345981 chr11:113346219-113346227 chr11:113346127-113346136
4	REST	chr11:113346046-113346302	MCF-7	breast:	n/a	chr11:113346219-113346227 chr11:113346127-113346136
5	REST	chr11:113344586-113346583	PFSK-1	brain:	n/a	chr11:113345221-113345241 chr11:113344906-113344915 chr11:113345968-113345981 chr11:113345232-113345241 chr11:113345227-113345236 chr11:113345888-113345901 chr11:113345716-113345729 chr11:113345221-113345241 chr11:113346219-113346227 chr11:113345879-113345892 chr11:113345513-113345526 chr11:113345222-113345240 chr11:113345852-113345862 chr11:113344873-113344891 chr11:113345488-113345501 chr11:113345221-113345235 chr11:113345225-113345238 chr11:113345221-113345241 chr11:113344902-113344920 chr11:113346127-113346136
6	REST	chr11:113344149-113346381	HL-60	blood:	n/a	chr11:113345221-113345241 chr11:113344906-113344915 chr11:113345968-113345981 chr11:113345232-113345241 chr11:113345227-113345236 chr11:113345888-113345901 chr11:113345716-113345729 chr11:113345221-113345241 chr11:113346219-113346227 chr11:113345879-113345892 chr11:113345513-113345526 chr11:113345222-113345240 chr11:113345852-113345862 chr11:113344873-113344891 chr11:113345488-113345501 chr11:113345221-113345235 chr11:113345225-113345238 chr11:113345221-113345241 chr11:113344902-113344920 chr11:113346127-113346136
7	REST	chr11:113344720-113346264	SK-N-SH	brain:	n/a	chr11:113345221-113345241 chr11:113344906-113344915 chr11:113345968-113345981 chr11:113345232-113345241 chr11:113345227-113345236 chr11:113345888-113345901 chr11:113345716-113345729 chr11:113345221-113345241 chr11:113346219-113346227 chr11:113345879-113345892 chr11:113345513-113345526 chr11:113345222-113345240 chr11:113345852-113345862 chr11:113344873-113344891 chr11:113345488-113345501 chr11:113345221-113345235 chr11:113345225-113345238 chr11:113345221-113345241 chr11:113344902-113344920 chr11:113346127-113346136
8	REST	chr11:113344076-113346611	PFSK-1	brain:	n/a	chr11:113345221-113345241 chr11:113344906-113344915 chr11:113345968-113345981 chr11:113345232-113345241 chr11:113345227-113345236 chr11:113345888-113345901 chr11:113345716-113345729 chr11:113345221-113345241 chr11:113346219-113346227 chr11:113345879-113345892 chr11:113345513-113345526 chr11:113345222-113345240 chr11:113345852-113345862 chr11:113344873-113344891 chr11:113345488-113345501 chr11:113345221-113345235 chr11:113345225-113345238 chr11:113345221-113345241 chr11:113344902-113344920 chr11:113346127-113346136
9	SIN3A	chr11:113345984-113346408	H1-hESC	embryonic stem cell:	n/a	chr11:113346220-113346228
10	REST	chr11:113345900-113346286	HL-60	blood:	n/a	chr11:113345968-113345981 chr11:113346219-113346227 chr11:113346127-113346136
11	REST	chr11:113345927-113346277	K562	blood:	n/a	chr11:113345968-113345981 chr11:113346219-113346227 chr11:113346127-113346136
12	REST	chr11:113345982-113346260	H1-hESC	embryonic stem cell:	n/a	chr11:113346219-113346227 chr11:113346127-113346136
13	REST	chr11:113346028-113346505	PANC-1	pancreas:	n/a	chr11:113346219-113346227 chr11:113346127-113346136
14	REST	chr11:113344669-113346419	ECC-1	luminal epithelium:	n/a	chr11:113345221-113345241 chr11:113344906-113344915 chr11:113345968-113345981 chr11:113345232-113345241 chr11:113345227-113345236 chr11:113345888-113345901 chr11:113345716-113345729 chr11:113345221-113345241 chr11:113346219-113346227 chr11:113345879-113345892 chr11:113345513-113345526 chr11:113345222-113345240 chr11:113345852-113345862 chr11:113344873-113344891 chr11:113345488-113345501 chr11:113345221-113345235 chr11:113345225-113345238 chr11:113345221-113345241 chr11:113344902-113344920 chr11:113346127-113346136
15	REST	chr11:113345979-113346326	PANC-1	pancreas:	n/a	chr11:113346219-113346227 chr11:113346127-113346136
16	REST	chr11:113346031-113346256	SK-N-SH	brain:	n/a	chr11:113346219-113346227 chr11:113346127-113346136
17	REST	chr11:113346022-113346703	PFSK-1	brain:	n/a	chr11:113346219-113346227 chr11:113346127-113346136
18	REST	chr11:113344792-113346356	MCF-7	breast:	n/a	chr11:113345221-113345241 chr11:113344906-113344915 chr11:113345968-113345981 chr11:113345232-113345241 chr11:113345227-113345236 chr11:113345888-113345901 chr11:113345716-113345729 chr11:113345221-113345241 chr11:113346219-113346227 chr11:113345879-113345892 chr11:113345513-113345526 chr11:113345222-113345240 chr11:113345852-113345862 chr11:113344873-113344891 chr11:113345488-113345501 chr11:113345221-113345235 chr11:113345225-113345238 chr11:113345221-113345241 chr11:113344902-113344920 chr11:113346127-113346136
19	REST	chr11:113344700-113346342	PANC-1	pancreas:	n/a	chr11:113345221-113345241 chr11:113344906-113344915 chr11:113345968-113345981 chr11:113345232-113345241 chr11:113345227-113345236 chr11:113345888-113345901 chr11:113345716-113345729 chr11:113345221-113345241 chr11:113346219-113346227 chr11:113345879-113345892 chr11:113345513-113345526 chr11:113345222-113345240 chr11:113345852-113345862 chr11:113344873-113344891 chr11:113345488-113345501 chr11:113345221-113345235 chr11:113345225-113345238 chr11:113345221-113345241 chr11:113344902-113344920 chr11:113346127-113346136

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:113346207-113346257	GM12891	blood:	n/a
2	chr11:113346207-113346257	NHDF-neo	bronchial:	n/a
3	chr11:113346207-113346257	HL-60	blood:	n/a
4	chr11:113346207-113346257	ovcar-3	ovarian:	n/a
5	chr11:113346201-113346251	HCM	heart:	n/a
6	chr11:113346201-113346251	Jurkat	blood:	n/a
7	chr11:113346207-113346257	HCPEpiC	choroid plexus:	n/a
8	chr11:113346207-113346257	HIPEpiC	eye:	n/a
9	chr11:113346201-113346251	MCF-7	breast:	n/a
10	chr11:113346207-113346257	U87	brain:	n/a
11	chr11:113346201-113346251	GM19239	blood:	n/a
12	chr11:113346207-113346257	RPTEC	kidney:	n/a
13	chr11:113346201-113346251	Hepatocyte	liver:	n/a
14	chr11:113346207-113346257	Jurkat	blood:	n/a
15	chr11:113346207-113346257	HCT-116	colon:	n/a
16	chr11:113346207-113346257	HRCEpiC	kidney:	n/a
17	chr11:113346207-113346257	AG09309	skin:	n/a
18	chr11:113346201-113346251	HepG2	liver:	n/a
19	chr11:113346207-113346257	K562	blood:	n/a
20	chr11:113346201-113346251	HRCEpiC	kidney:	n/a
21	chr11:113346207-113346257	NT2-D1	testis:	n/a
22	chr11:113346201-113346251	ProgFib	skin:	n/a
23	chr11:113346201-113346251	HRPEpiC	eye:	n/a
24	chr11:113346207-113346257	GM06990	blood:	n/a
25	chr11:113346201-113346251	HCF	heart:	n/a
26	chr11:113346207-113346257	ECC-1	luminal epithelium:	n/a
27	chr11:113346201-113346251	H1-hESC	embryonic stem cell:	embryo
28	chr11:113346207-113346257	HNPCEpiC	eye:	n/a
29	chr11:113346207-113346257	NH-A	brain:	n/a
30	chr11:113346207-113346257	NHBE	bronchial:	n/a
31	chr11:113346201-113346251	AG09309	skin:	n/a
32	chr11:113346207-113346257	PANC-1	pancreas:	n/a
33	chr11:113346201-113346251	SK-N-MC	brain:	n/a
34	chr11:113346201-113346251	AG09319	gingival:	n/a
35	chr11:113346207-113346257	AG04450	lung:	fetal
36	chr11:113346207-113346257	SK-N-MC	brain:	n/a
37	chr11:113346207-113346257	AG10803	skin:	n/a
38	chr11:113346201-113346251	MCF10A-Er-Src	breast:	n/a
39	chr11:113346207-113346257	BJ	skin:	n/a
40	chr11:113346207-113346257	HUVEC	blood vessel:	n/a
41	chr11:113346201-113346251	K562	blood:	n/a
42	chr11:113346201-113346251	T-47D	breast:	n/a
43	chr11:113346207-113346257	GM12878	blood:	n/a
44	chr11:113346207-113346257	IMR90	lung:	fetal
45	chr11:113346207-113346257	GM19239	blood:	n/a
46	chr11:113346201-113346251	GM12892	blood:	n/a
47	chr11:113346207-113346257	NB4	blood:	n/a
48	chr11:113346207-113346257	HRPEpiC	eye:	n/a
49	chr11:113346207-113346257	Hela-S3	cervix:	n/a
50	chr11:113346201-113346251	CMK	blood:	n/a

Variant related genes	Relation type
DRD2	TF binding region
DRD2	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv523683	chr11:113341391-113346955	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	esv3404066	chr11:113344767-113347615	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113344800-113346600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr11:113344800-113346600	Enhancers	Pancreas	Pancrea
3	chr11:113344800-113346800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:113344800-113346800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:113345000-113346400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr11:113345000-113346400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:113345000-113346400	Enhancers	Gastric	stomach
8	chr11:113345000-113346600	Bivalent Enhancer	Placenta	Placenta
9	chr11:113345000-113346600	Bivalent Enhancer	Spleen	Spleen
10	chr11:113345000-113346800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:113345200-113346400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:113345200-113346400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:113345200-113346400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:113345200-113346400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:113345200-113346400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:113345200-113346600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:113345200-113347000	Active TSS	Brain Anterior Caudate	brain
18	chr11:113345600-113346400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
19	chr11:113345600-113346400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
20	chr11:113345600-113346600	Bivalent/Poised TSS	Fetal Brain Female	brain
21	chr11:113345600-113346600	Enhancers	Ovary	ovary
22	chr11:113345800-113346400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:113345800-113346400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:113345800-113346400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:113345800-113346400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr11:113346000-113346400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:113346000-113346400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:113346000-113346600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr11:113346200-113346400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:113346200-113346400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:113346200-113346400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:113346200-113346400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:113346200-113346400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:113346200-113346400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:113346200-113346400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:113346200-113346400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
37	chr11:113346200-113346400	Bivalent Enhancer	Left Ventricle	heart
38	chr11:113346200-113346400	Bivalent Enhancer	Right Ventricle	heart
39	chr11:113346200-113346600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr11:113346200-113346600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
41	chr11:113346200-113346600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:113346200-113346600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:113346200-113346600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr11:113346200-113346600	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr11:113346200-113346600	Flanking Active TSS	HMEC	breast
46	chr11:113346200-113346600	Bivalent/Poised TSS	HSMM	muscle
47	chr11:113346200-113346800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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