Variant report

Variant	rs200452330
Chromosome Location	chr9:72287635-72287636
allele	A/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	POLR2A	chr9:72287202-72287680	HUVEC	blood vessel:	n/a	n/a
2	PBX3	chr9:72287631-72288208	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr9:72287114-72287952	Gliobla	brain:	n/a	n/a
4	MAX	chr9:72286708-72288222	SK-N-SH	brain:	n/a	chr9:72287424-72287434
5	CTCF	chr9:72287580-72287730	HUVEC	blood vessel:	n/a	chr9:72287629-72287642
6	POLR2A	chr9:72287083-72287716	ProgFib	skin:	n/a	n/a
7	CTCF	chr9:72287555-72288102	GM12892	blood:	n/a	chr9:72287629-72287642 chr9:72287953-72287962 chr9:72288010-72288019
8	POLR2A	chr9:72286150-72288240	H1-neurons	neurons:	n/a	n/a
9	E2F6	chr9:72287375-72288132	K562	blood:	n/a	chr9:72287532-72287542 chr9:72287861-72287868 chr9:72287861-72287868 chr9:72287860-72287868 chr9:72287860-72287872 chr9:72287861-72287868
10	CTCF	chr9:72287593-72288493	A549	lung:	n/a	chr9:72287629-72287642 chr9:72288204-72288214 chr9:72287953-72287962 chr9:72288010-72288019
11	CTCF	chr9:72287524-72288199	GM12878	blood:	n/a	chr9:72287629-72287642 chr9:72287953-72287962 chr9:72288010-72288019
12	SIN3A	chr9:72287529-72288407	H1-hESC	embryonic stem cell:	n/a	chr9:72287751-72287759
13	MXI1	chr9:72287631-72288114	HepG2	liver:	n/a	n/a
14	CTCF	chr9:72287594-72288115	GM12891	blood:	n/a	chr9:72287629-72287642 chr9:72287953-72287962 chr9:72288010-72288019
15	CTCF	chr9:72287601-72287728	MCF-7	breast:	n/a	chr9:72287629-72287642
16	CTCF	chr9:72286001-72288515	SK-N-SH	brain:	n/a	chr9:72287629-72287642 chr9:72288204-72288214 chr9:72287510-72287523 chr9:72287953-72287962 chr9:72288010-72288019
17	RAD21	chr9:72287512-72288259	IMR90	lung:	n/a	chr9:72287629-72287643
18	CTCF	chr9:72287471-72288090	Fibrobl	skin:	n/a	chr9:72287629-72287642 chr9:72287510-72287523 chr9:72287953-72287962 chr9:72288010-72288019
19	CTCF	chr9:72287540-72287690	AG04449	skin:	n/a	chr9:72287629-72287642
20	MAX	chr9:72287092-72288302	ECC-1	luminal epithelium:	n/a	chr9:72287424-72287434
21	MAX	chr9:72287508-72288141	MCF-7	breast:	n/a	n/a
22	SMC3	chr9:72286221-72288597	SK-N-SH	brain:	n/a	chr9:72286908-72286918 chr9:72287103-72287113
23	ELF1	chr9:72287623-72288287	GM12878	blood:	n/a	n/a
24	E2F6	chr9:72287455-72288125	H1-hESC	embryonic stem cell:	n/a	chr9:72287532-72287542 chr9:72287861-72287868 chr9:72287861-72287868 chr9:72287860-72287868 chr9:72287860-72287872 chr9:72287861-72287868
25	TAF1	chr9:72287582-72288075	SK-N-SH	brain:	n/a	n/a
26	MAX	chr9:72287428-72288253	A549	lung:	n/a	n/a
27	TCF12	chr9:72287591-72288208	A549	lung:	n/a	n/a
28	ZBTB7A	chr9:72287442-72288013	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr9:72287047-72288150	ECC-1	luminal epithelium:	n/a	n/a
30	ZBTB7A	chr9:72287410-72287899	ECC-1	luminal epithelium:	n/a	n/a
31	CTCF	chr9:72287600-72287730	GM10266	blood:	n/a	chr9:72287629-72287642
32	TCF12	chr9:72287629-72288529	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr9:72287540-72287690	HCM	heart:	n/a	chr9:72287629-72287642
34	HMGN3	chr9:72287477-72288009	K562	blood:	n/a	n/a
35	CTCF	chr9:72287574-72288287	HCT-116	colon:	n/a	chr9:72287629-72287642 chr9:72288204-72288214 chr9:72287953-72287962 chr9:72288010-72288019
36	CTCF	chr9:72287572-72288204	IMR90	lung:	n/a	chr9:72287629-72287642 chr9:72287953-72287962 chr9:72288010-72288019
37	MAZ	chr9:72286272-72288380	IMR90	lung:	n/a	chr9:72287424-72287434 chr9:72286293-72286302
38	POLR2A	chr9:72286082-72288205	H1-neurons	neurons:	n/a	n/a
39	CTCF	chr9:72287596-72287741	GM19239	blood:	n/a	chr9:72287629-72287642
40	CTCF	chr9:72287614-72288128	GM19240	blood:	n/a	chr9:72287629-72287642 chr9:72287953-72287962 chr9:72288010-72288019
41	MAX	chr9:72287096-72288412	A549	lung:	n/a	chr9:72287424-72287434
42	RAD21	chr9:72287627-72288285	HCT-116	colon:	n/a	chr9:72287629-72287643
43	E2F6	chr9:72287464-72288195	H1-hESC	embryonic stem cell:	n/a	chr9:72287532-72287542 chr9:72287861-72287868 chr9:72287861-72287868 chr9:72287860-72287868 chr9:72287860-72287872 chr9:72287861-72287868
44	MAX	chr9:72287169-72288197	H1-hESC	embryonic stem cell:	n/a	chr9:72287424-72287434
45	EP300	chr9:72286883-72288192	ECC-1	luminal epithelium:	n/a	chr9:72288031-72288047
46	KAP1	chr9:72287609-72288424	HEK293	kidney:	n/a	n/a
47	ZNF263	chr9:72287561-72288287	HEK293-T-REx	kidney:	n/a	n/a
48	POLR2A	chr9:72287194-72287981	MCF-7	breast:	n/a	n/a
49	CTCF	chr9:72287560-72287710	HepG2	liver:	n/a	chr9:72287629-72287642
50	YY1	chr9:72287558-72288171	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72287056..72289421-chr9:72373634..72375235,2	MCF-7	breast:
2	chr9:72286195..72289118-chr9:72373474..72376010,3	MCF-7	breast:

Variant related genes	Relation type
APBA1	TF binding region
ENSG00000261447	TF binding region
ENSG00000188647	Chromatin interaction

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	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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	10 gene(s)	inside rSNPs	diseases
2	esv3389299	chr9:72286157-72289005	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3321912	chr9:72286882-72288180	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72285400-72288400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr9:72286000-72288200	Active TSS	Brain Substantia Nigra	brain
3	chr9:72286200-72288000	Active TSS	Colonic Mucosa	Colon
4	chr9:72286200-72288200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr9:72286200-72288200	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr9:72286200-72288600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:72286400-72287800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr9:72286400-72288000	Active TSS	Rectal Smooth Muscle	rectum
9	chr9:72286400-72288000	Active TSS	HSMM	muscle
10	chr9:72286400-72288200	Active TSS	Brain Cingulate Gyrus	brain
11	chr9:72286400-72288200	Active TSS	Brain Hippocampus Middle	brain
12	chr9:72286400-72288400	Active TSS	Aorta	Aorta
13	chr9:72286400-72288400	Active TSS	HSMMtube	muscle
14	chr9:72286400-72288600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr9:72286600-72287800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
16	chr9:72286600-72288000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:72286600-72288000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:72286600-72288000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr9:72286600-72288000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:72286600-72288000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:72286600-72288000	Active TSS	Gastric	stomach
22	chr9:72286600-72288000	Active TSS	NHDF-Ad	bronchial
23	chr9:72286600-72288200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr9:72286600-72288200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:72286600-72288200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr9:72286600-72288200	Active TSS	Brain Angular Gyrus	brain
27	chr9:72286600-72288200	Active TSS	Fetal Lung	lung
28	chr9:72286600-72288200	Active TSS	Left Ventricle	heart
29	chr9:72286600-72288200	Bivalent/Poised TSS	Thymus	Thymus
30	chr9:72286600-72288400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr9:72286600-72288400	Active TSS	Fetal Kidney	kidney
32	chr9:72286600-72288400	Active TSS	Ovary	ovary
33	chr9:72286600-72288400	Active TSS	Psoas Muscle	Psoas
34	chr9:72286600-72288400	Active TSS	Right Atrium	heart
35	chr9:72286600-72288400	Active TSS	Right Ventricle	heart
36	chr9:72286600-72288600	Active TSS	Brain Anterior Caudate	brain
37	chr9:72286600-72288600	Active TSS	Fetal Brain Female	brain
38	chr9:72286800-72287800	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr9:72286800-72288000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:72286800-72288000	Active TSS	Small Intestine	intestine
41	chr9:72286800-72288000	Active TSS	NH-A	brain
42	chr9:72286800-72288200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr9:72286800-72288200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:72286800-72288200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:72286800-72288200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:72286800-72288200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr9:72286800-72288200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr9:72286800-72288200	Active TSS	Colon Smooth Muscle	Colon
49	chr9:72286800-72288200	Weak transcription	Fetal Heart	heart
50	chr9:72286800-72288200	Active TSS	NHLF	lung

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