Variant report

Variant	rs552802046
Chromosome Location	chr7:145813052-145813053
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	EGR1	chr7:145812786-145813322	H1-hESC	embryonic stem cell:	n/a	chr7:145813080-145813089 chr7:145813078-145813092 chr7:145813079-145813092 chr7:145813076-145813090 chr7:145813079-145813092 chr7:145813078-145813093 chr7:145813079-145813092 chr7:145813079-145813092 chr7:145813079-145813089
2	CTCF	chr7:145812908-145813145	K562	blood:	n/a	n/a
3	RAD21	chr7:145812777-145814184	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr7:145812905-145813127	MCF-7	breast:	n/a	n/a
5	CTCF	chr7:145812913-145813104	MCF-7	breast:	n/a	n/a
6	SIN3A	chr7:145812747-145814372	H1-hESC	embryonic stem cell:	n/a	chr7:145813364-145813375 chr7:145813024-145813038
7	REST	chr7:145812650-145813319	SK-N-SH	brain:	n/a	chr7:145813023-145813037 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
8	REST	chr7:145812847-145813289	HepG2	liver:	n/a	chr7:145813023-145813037 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
9	TAF1	chr7:145812937-145814181	H1-neurons	neurons:	n/a	n/a
10	REST	chr7:145812689-145813303	H1-hESC	embryonic stem cell:	n/a	chr7:145813023-145813037 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
11	ZBTB7A	chr7:145812865-145813317	ECC-1	luminal epithelium:	n/a	n/a
12	RCOR1	chr7:145812783-145813240	K562	blood:	n/a	n/a
13	MXI1	chr7:145812053-145815194	SK-N-SH	brain:	n/a	n/a
14	REST	chr7:145812584-145814281	U87	brain:	n/a	chr7:145813023-145813037 chr7:145813547-145813560 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
15	REST	chr7:145812676-145813305	PFSK-1	brain:	n/a	chr7:145813023-145813037 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
16	REST	chr7:145812873-145813158	GM12878	blood:	n/a	chr7:145813023-145813037 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
17	CTCF	chr7:145812940-145813090	WERI-Rb-1	eye:	n/a	n/a
18	CHD2	chr7:145812779-145814147	H1-hESC	embryonic stem cell:	n/a	chr7:145813043-145813053
19	REST	chr7:145812608-145813648	ECC-1	luminal epithelium:	n/a	chr7:145813023-145813037 chr7:145813547-145813560 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
20	MYC	chr7:145812960-145813105	MCF-7	breast:	n/a	n/a
21	REST	chr7:145812571-145813327	GM12878	blood:	n/a	chr7:145813023-145813037 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
22	CBX3	chr7:145812871-145813165	K562	blood:	n/a	n/a
23	RAD21	chr7:145812869-145813149	K562	blood:	n/a	n/a
24	EGR1	chr7:145812972-145813135	GM12878	blood:	n/a	chr7:145813080-145813089 chr7:145813078-145813092 chr7:145813079-145813092 chr7:145813076-145813090 chr7:145813079-145813092 chr7:145813078-145813093 chr7:145813079-145813092 chr7:145813079-145813092 chr7:145813079-145813089
25	HCFC1	chr7:145812906-145813206	K562	blood:	n/a	n/a
26	SP1	chr7:145812686-145813220	H1-hESC	embryonic stem cell:	n/a	chr7:145813076-145813088 chr7:145813084-145813093 chr7:145813078-145813087 chr7:145813083-145813092 chr7:145812904-145812915 chr7:145813076-145813088 chr7:145813077-145813086 chr7:145813082-145813094
27	CHD2	chr7:145813014-145813128	K562	blood:	n/a	chr7:145813043-145813053
28	CTCF	chr7:145812940-145813090	HRE	kidney:	n/a	n/a
29	CHD1	chr7:145812804-145813353	H1-hESC	embryonic stem cell:	n/a	chr7:145813043-145813053
30	E2F6	chr7:145812933-145813128	K562	blood:	n/a	n/a
31	REST	chr7:145812845-145813246	PANC-1	pancreas:	n/a	chr7:145813023-145813037 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
32	CBX3	chr7:145812824-145813236	K562	blood:	n/a	n/a
33	REST	chr7:145812813-145813243	HepG2	liver:	n/a	chr7:145813023-145813037 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
34	REST	chr7:145812558-145814056	SK-N-SH	brain:	n/a	chr7:145813023-145813037 chr7:145813547-145813560 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
35	RFX5	chr7:145811821-145815238	SK-N-SH	brain:	n/a	chr7:145813536-145813544
36	ZNF263	chr7:145812563-145814333	HEK293-T-REx	kidney:	n/a	chr7:145813190-145813211 chr7:145812906-145812915
37	SIN3AK20	chr7:145812827-145813279	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr7:145812891-145813095	H1-hESC	embryonic stem cell:	n/a	n/a
39	REST	chr7:145812692-145813191	GM12878	blood:	n/a	chr7:145813023-145813037 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
40	HDAC2	chr7:145812883-145813174	H1-hESC	embryonic stem cell:	n/a	chr7:145813024-145813043
41	SIN3AK20	chr7:145812779-145814172	H1-hESC	embryonic stem cell:	n/a	n/a
42	REST	chr7:145812584-145813561	MCF-7	breast:	n/a	chr7:145813023-145813037 chr7:145813547-145813560 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
43	REST	chr7:145812771-145813211	A549	lung:	n/a	chr7:145813023-145813037 chr7:145813027-145813040 chr7:145813027-145813040 chr7:145813023-145813043 chr7:145813029-145813038 chr7:145813024-145813042 chr7:145813023-145813043 chr7:145813025-145813035 chr7:145813023-145813043
44	MYC	chr7:145812916-145813186	NB4	blood:	n/a	n/a
45	TAF7	chr7:145812914-145813228	H1-hESC	embryonic stem cell:	n/a	n/a
46	EP300	chr7:145812729-145813493	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr7:145812827-145813758	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr7:145812940-145813090	SK-N-SH_RA	brain:	n/a	n/a
49	ZNF143	chr7:145812852-145813176	K562	blood:	n/a	n/a
50	JUND	chr7:145812929-145813181	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:145813031-145813081	AG04450	lung:	fetal
2	chr7:145813031-145813081	SK-N-SH	brain:	n/a
3	chr7:145813008-145813058	HCF	heart:	n/a
4	chr7:145813031-145813081	NT2-D1	testis:	n/a
5	chr7:145813031-145813081	HEK293	kidney:	embryo
6	chr7:145813031-145813081	HEEpiC	esophagus:	n/a
7	chr7:145813008-145813058	IMR90	lung:	fetal
8	chr7:145813031-145813081	HCT-116	colon:	n/a
9	chr7:145813008-145813058	GM19239	blood:	n/a
10	chr7:145813008-145813058	CMK	blood:	n/a
11	chr7:145813008-145813058	T-47D	breast:	n/a
12	chr7:145813008-145813058	HRE	kidney:	n/a
13	chr7:145813008-145813058	Jurkat	blood:	n/a
14	chr7:145813008-145813058	SAEC	small airway:	n/a
15	chr7:145813031-145813081	AG09319	gingival:	n/a
16	chr7:145813031-145813081	Caco-2	colon:	n/a
17	chr7:145813031-145813081	HCM	heart:	n/a
18	chr7:145813008-145813058	AG04449	skin:	fetal
19	chr7:145813008-145813058	RPTEC	kidney:	n/a
20	chr7:145813008-145813058	LNCaP	prostate:	n/a
21	chr7:145813008-145813058	SK-N-SH_RA	brain:	n/a
22	chr7:145813008-145813058	GM12891	blood:	n/a
23	chr7:145813008-145813058	AoSMC	blood vessel:	n/a
24	chr7:145813031-145813081	HCPEpiC	choroid plexus:	n/a
25	chr7:145813031-145813081	SK-N-SH_RA	brain:	n/a
26	chr7:145813008-145813058	NHBE	bronchial:	n/a
27	chr7:145813008-145813058	HEEpiC	esophagus:	n/a
28	chr7:145813031-145813081	HL-60	blood:	n/a
29	chr7:145813008-145813058	NH-A	brain:	n/a
30	chr7:145813031-145813081	GM12878	blood:	n/a
31	chr7:145813031-145813081	HAEpiC	amniotic membrane:	n/a
32	chr7:145813008-145813058	ovcar-3	ovarian:	n/a
33	chr7:145813031-145813081	PFSK-1	brain:	n/a
34	chr7:145813031-145813081	H1-hESC	embryonic stem cell:	embryo
35	chr7:145813008-145813058	K562	blood:	n/a
36	chr7:145813031-145813081	MCF10A-Er-Src	breast:	n/a
37	chr7:145813008-145813058	ECC-1	luminal epithelium:	n/a
38	chr7:145813008-145813058	A549	lung:	n/a
39	chr7:145813031-145813081	BE2_C	brain:	n/a
40	chr7:145813031-145813081	GM19239	blood:	n/a
41	chr7:145813031-145813081	RPTEC	kidney:	n/a
42	chr7:145813008-145813058	Hela-S3	cervix:	n/a
43	chr7:145813008-145813058	HCPEpiC	choroid plexus:	n/a
44	chr7:145813031-145813081	MCF-7	breast:	n/a
45	chr7:145813008-145813058	H1-hESC	embryonic stem cell:	embryo
46	chr7:145813008-145813058	HCT-116	colon:	n/a
47	chr7:145813031-145813081	Hela-S3	cervix:	n/a
48	chr7:145813031-145813081	ProgFib	skin:	n/a
49	chr7:145813008-145813058	PFSK-1	brain:	n/a
50	chr7:145813031-145813081	AG09309	skin:	n/a

Variant related genes	Relation type
CNTNAP2	TF binding region
CNTNAP2	CpG island

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	nsv889384	chr7:145541783-146239545	Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1023861	chr7:145606069-145910049	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539170	chr7:145606069-145910049	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1020950	chr7:145683419-146264304	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv981604	chr7:145773003-145935052	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv608927	chr7:145803095-145882001	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv817332	chr7:145811034-145829299	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145812000-145813600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr7:145812200-145813600	Active TSS	Brain Anterior Caudate	brain
3	chr7:145812200-145815200	Active TSS	Brain Angular Gyrus	brain
4	chr7:145812400-145813600	Active TSS	Brain Hippocampus Middle	brain
5	chr7:145812400-145815200	Active TSS	Fetal Brain Female	brain
6	chr7:145812600-145813400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:145812600-145813400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:145812600-145813400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:145812600-145813800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:145812600-145814000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:145812600-145814000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:145812600-145814000	Active TSS	Brain Cingulate Gyrus	brain
13	chr7:145812600-145814000	Active TSS	Fetal Brain Male	brain
14	chr7:145812600-145814200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:145812600-145814200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr7:145812600-145814200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
17	chr7:145812600-145814200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr7:145812600-145814400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr7:145812600-145814600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:145812800-145813200	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr7:145812800-145813400	Enhancers	Lung	lung
22	chr7:145812800-145813400	Active TSS	Stomach Smooth Muscle	stomach
23	chr7:145812800-145813400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
24	chr7:145812800-145813600	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr7:145812800-145813600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr7:145812800-145813600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr7:145812800-145813600	Weak transcription	Fetal Heart	heart
28	chr7:145812800-145813800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:145812800-145813800	Bivalent Enhancer	Liver	Liver
30	chr7:145812800-145813800	Active TSS	Brain Substantia Nigra	brain
31	chr7:145812800-145813800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr7:145812800-145813800	Active TSS	NH-A	brain
33	chr7:145812800-145814000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:145812800-145814000	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr7:145812800-145814000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:145812800-145814000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
37	chr7:145812800-145814000	Active TSS	Colonic Mucosa	Colon
38	chr7:145812800-145814200	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr7:145812800-145814200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:145812800-145814200	Flanking Active TSS	Ovary	ovary
41	chr7:145812800-145814200	Flanking Active TSS	Pancreas	Pancrea
42	chr7:145812800-145814400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr7:145812800-145814400	Enhancers	Spleen	Spleen
44	chr7:145812800-145814600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr7:145812800-145814800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
46	chr7:145812800-145815000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:145812800-145815400	Active TSS	Brain Germinal Matrix	brain
48	chr7:145812800-145815400	Active TSS	Fetal Kidney	kidney
49	chr7:145813000-145813200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:145813000-145813200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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