Variant report

Variant	rs551903959
Chromosome Location	chr7:22396635-22396636
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	chr7:22395826-22397740	ECC-1	luminal epithelium:	n/a	chr7:22396400-22396409 chr7:22396401-22396408 chr7:22396247-22396257
2	MXI1	chr7:22396553-22396708	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr7:22396532-22396800	GM12891	blood:	n/a	chr7:22396785-22396799
4	POLR2A	chr7:22396584-22396843	HepG2	liver:	n/a	n/a
5	SIN3A	chr7:22395713-22396845	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr7:22396258-22396851	HepG2	liver:	n/a	chr7:22396400-22396409 chr7:22396401-22396408
7	HDAC2	chr7:22396556-22397247	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:22395920-22397909	HepG2	liver:	n/a	n/a
9	MAX	chr7:22395733-22398023	HepG2	liver:	n/a	chr7:22396400-22396409 chr7:22396401-22396408 chr7:22396247-22396257
10	CTCF	chr7:22396620-22396770	HMEC	breast:	n/a	n/a
11	MAX	chr7:22395821-22397345	H1-hESC	embryonic stem cell:	n/a	chr7:22396400-22396409 chr7:22396401-22396408 chr7:22396247-22396257
12	TAF1	chr7:22396514-22396866	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:22396466-22397005	HUVEC	blood vessel:	n/a	n/a
14	STAT3	chr7:22396607-22397791	MCF10A-Er-Src	breast:	n/a	chr7:22397019-22397033 chr7:22397177-22397189 chr7:22397419-22397430 chr7:22397022-22397030 chr7:22397509-22397517
15	MAX	chr7:22396532-22397762	ECC-1	luminal epithelium:	n/a	n/a
16	BHLHE40	chr7:22395948-22397776	HepG2	liver:	n/a	chr7:22396791-22396807
17	POLR2A	chr7:22396477-22396836	HCT-116	colon:	n/a	n/a
18	PAX5	chr7:22396584-22396838	GM12892	blood:	n/a	n/a
19	HA-E2F1	chr7:22396589-22397706	MCF-7	breast:	n/a	chr7:22396694-22396704
20	POLR2A	chr7:22396477-22396822	ECC-1	luminal epithelium:	n/a	n/a
21	HEY1	chr7:22396317-22398005	HepG2	liver:	n/a	chr7:22396714-22396729
22	MYC	chr7:22396558-22397616	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr7:22396532-22396847	GM12878	blood:	n/a	n/a
24	TBP	chr7:22396573-22396797	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:22395614-22397066	Raji	blood:	n/a	n/a
26	EBF1	chr7:22396552-22396964	GM12878	blood:	n/a	n/a
27	RAD21	chr7:22396251-22396905	H1-hESC	embryonic stem cell:	n/a	chr7:22396794-22396807
28	RAD21	chr7:22396592-22396860	SK-N-SH_RA	brain:	n/a	chr7:22396794-22396807
29	MAZ	chr7:22396601-22397090	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:22395610-22396939	GM19099	blood:	n/a	n/a
31	POLR2A	chr7:22395775-22396933	GM19193	blood:	n/a	n/a
32	POLR2A	chr7:22396571-22396869	HepG2	liver:	n/a	n/a
33	POLR2A	chr7:22396406-22397026	MCF-7	breast:	n/a	n/a
34	ZEB1	chr7:22396466-22397931	HepG2	liver:	n/a	chr7:22397008-22397019
35	POLR2A	chr7:22396375-22396834	GM12892	blood:	n/a	n/a
36	POLR2A	chr7:22396588-22396796	HUVEC	blood vessel:	n/a	n/a
37	MYC	chr7:22396402-22396785	MCF-7	breast:	n/a	n/a
38	MAX	chr7:22396342-22397654	HepG2	liver:	n/a	chr7:22396400-22396409 chr7:22396401-22396408
39	POLR2A	chr7:22396542-22396869	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:22396478-22398049	HepG2	liver:	n/a	n/a
41	YY1	chr7:22396385-22396850	H1-hESC	embryonic stem cell:	n/a	chr7:22396785-22396799 chr7:22396385-22396399
42	NFIC	chr7:22396573-22397786	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr7:22396244-22396843	GM12878	blood:	n/a	n/a
44	POLR2A	chr7:22396459-22396891	H1-hESC	embryonic stem cell:	n/a	n/a
45	TCF12	chr7:22396445-22397841	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr7:22396530-22396915	MCF10A-Er-Src	breast:	n/a	n/a
47	TCF3	chr7:22396441-22396845	GM12878	blood:	n/a	n/a
48	POLR2A	chr7:22396464-22396957	MCF-7	breast:	n/a	n/a
49	POLR2A	chr7:22396425-22396868	ECC-1	luminal epithelium:	n/a	n/a
50	BACH1	chr7:22396582-22397110	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RAPGEF5	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830923	chr7:22316841-22494973	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3437848	chr7:22395252-22397800	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3375885	chr7:22395502-22397825	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3445637	chr7:22395652-22398200	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr7:22393800-22397000	Active TSS	Brain Anterior Caudate	brain
2	chr7:22394200-22397000	Active TSS	Brain Angular Gyrus	brain
3	chr7:22394400-22397600	Active TSS	Duodenum Mucosa	Duodenum
4	chr7:22394800-22397000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:22395000-22397000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:22395000-22397000	Active TSS	Esophagus	oesophagus
7	chr7:22395000-22397000	Active TSS	Fetal Intestine Large	intestine
8	chr7:22395000-22397000	Active TSS	GM12878-XiMat	blood
9	chr7:22395000-22397200	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr7:22395000-22397600	Active TSS	Brain Cingulate Gyrus	brain
11	chr7:22395200-22396800	Bivalent/Poised TSS	Small Intestine	intestine
12	chr7:22395200-22397000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:22395200-22397000	Active TSS	Colonic Mucosa	Colon
14	chr7:22395200-22397000	Active TSS	Lung	lung
15	chr7:22395400-22397000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr7:22395400-22397000	Active TSS	Pancreas	Pancrea
17	chr7:22395400-22397000	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr7:22395400-22397000	Bivalent/Poised TSS	HepG2	liver
19	chr7:22395400-22397200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:22395400-22397400	Active TSS	Thymus	Thymus
21	chr7:22395600-22397000	Active TSS	Fetal Intestine Small	intestine
22	chr7:22395600-22397000	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr7:22395600-22397000	Active TSS	Spleen	Spleen
24	chr7:22395800-22397000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:22395800-22397000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:22395800-22397000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:22395800-22397000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:22395800-22397000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:22395800-22397200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:22395800-22397200	Active TSS	Gastric	stomach
31	chr7:22395800-22397400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr7:22396000-22396800	Bivalent/Poised TSS	HSMM	muscle
33	chr7:22396000-22397000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr7:22396000-22397000	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr7:22396000-22397000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr7:22396000-22397000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:22396000-22397000	Active TSS	Primary hematopoietic stem cells	blood
38	chr7:22396000-22397000	Active TSS	Muscle Satellite Cultured Cells	--
39	chr7:22396000-22397000	Active TSS	Left Ventricle	heart
40	chr7:22396000-22397000	Active TSS	Psoas Muscle	Psoas
41	chr7:22396000-22397000	Active TSS	Right Atrium	heart
42	chr7:22396000-22397000	Active TSS	HUVEC	blood vessel
43	chr7:22396000-22397000	Active TSS	NH-A	brain
44	chr7:22396000-22397200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:22396000-22397200	Active TSS	Brain Hippocampus Middle	brain
46	chr7:22396000-22397200	Active TSS	Fetal Brain Female	brain
47	chr7:22396000-22397400	Active TSS	Primary T cells from cord blood	blood
48	chr7:22396000-22397400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr7:22396200-22396800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:22396200-22396800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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