Variant report

Variant	rs534204868
Chromosome Location	chr9:72287251-72287252
allele	C/G
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	USF1	chr9:72287172-72287414	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr9:72287202-72287680	HUVEC	blood vessel:	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	YY1	chr9:72286772-72287303	ECC-1	luminal epithelium:	n/a	chr9:72287253-72287264 chr9:72287080-72287094
6	POLR2A	chr9:72287083-72287716	ProgFib	skin:	n/a	n/a
7	POLR2A	chr9:72286150-72288240	H1-neurons	neurons:	n/a	n/a
8	TAF1	chr9:72286695-72287270	H1-neurons	neurons:	n/a	n/a
9	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
10	MAX	chr9:72287092-72288302	ECC-1	luminal epithelium:	n/a	chr9:72287424-72287434
11	YY1	chr9:72287017-72287351	SK-N-SH_RA	brain:	n/a	chr9:72287253-72287264 chr9:72287080-72287094
12	YY1	chr9:72286996-72287284	SK-N-SH_RA	brain:	n/a	chr9:72287253-72287264 chr9:72287080-72287094
13	SMC3	chr9:72286221-72288597	SK-N-SH	brain:	n/a	chr9:72286908-72286918 chr9:72287103-72287113
14	YY1	chr9:72286995-72287260	K562	blood:	n/a	chr9:72287080-72287094
15	POLR2A	chr9:72287047-72288150	ECC-1	luminal epithelium:	n/a	n/a
16	YY1	chr9:72286976-72287432	HepG2	liver:	n/a	chr9:72287253-72287264 chr9:72287080-72287094
17	REST	chr9:72286572-72287295	H1-neurons	neurons:	n/a	chr9:72287119-72287126
18	USF1	chr9:72287150-72287556	ECC-1	luminal epithelium:	n/a	chr9:72287509-72287525
19	E2F6	chr9:72287250-72287500	K562	blood:	n/a	chr9:72287312-72287324
20	MAZ	chr9:72286272-72288380	IMR90	lung:	n/a	chr9:72287424-72287434 chr9:72286293-72286302
21	POLR2A	chr9:72286082-72288205	H1-neurons	neurons:	n/a	n/a
22	MAX	chr9:72287096-72288412	A549	lung:	n/a	chr9:72287424-72287434
23	MAX	chr9:72287169-72288197	H1-hESC	embryonic stem cell:	n/a	chr9:72287424-72287434
24	EP300	chr9:72286883-72288192	ECC-1	luminal epithelium:	n/a	chr9:72288031-72288047
25	POLR2A	chr9:72287194-72287981	MCF-7	breast:	n/a	n/a
26	SIN3A	chr9:72286562-72287271	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr9:72285926-72288545	SK-N-SH	brain:	n/a	chr9:72287629-72287643 chr9:72286908-72286918 chr9:72287509-72287523 chr9:72287335-72287348
28	TAF1	chr9:72286580-72288270	H1-neurons	neurons:	n/a	n/a
29	MAX	chr9:72287048-72288305	ECC-1	luminal epithelium:	n/a	chr9:72287424-72287434
30	POLR2A	chr9:72287072-72287884	MCF-7	breast:	n/a	n/a
31	MAX	chr9:72287060-72288184	SK-N-SH	brain:	n/a	chr9:72287424-72287434
32	POLR2A	chr9:72287232-72287289	H1-hESC	embryonic stem cell:	n/a	n/a
33	USF1	chr9:72287226-72287436	SK-N-SH_RA	brain:	n/a	n/a
34	YY1	chr9:72286885-72287301	H1-hESC	embryonic stem cell:	n/a	chr9:72287253-72287264 chr9:72287080-72287094
35	REST	chr9:72286012-72288556	H1-neurons	neurons:	n/a	chr9:72287119-72287126 chr9:72288032-72288045 chr9:72287792-72287806

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
ENSG00000261447	TF binding region
APBA1	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:118 , 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	chr9:72286000-72287600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr9:72286000-72288200	Active TSS	Brain Substantia Nigra	brain
4	chr9:72286200-72287600	Active TSS	Osteobl	bone
5	chr9:72286200-72288000	Active TSS	Colonic Mucosa	Colon
6	chr9:72286200-72288200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr9:72286200-72288200	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr9:72286200-72288600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:72286400-72287600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr9:72286400-72287600	Active TSS	Primary T cells from cord blood	blood
11	chr9:72286400-72287800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr9:72286400-72288000	Active TSS	Rectal Smooth Muscle	rectum
13	chr9:72286400-72288000	Active TSS	HSMM	muscle
14	chr9:72286400-72288200	Active TSS	Brain Cingulate Gyrus	brain
15	chr9:72286400-72288200	Active TSS	Brain Hippocampus Middle	brain
16	chr9:72286400-72288400	Active TSS	Aorta	Aorta
17	chr9:72286400-72288400	Active TSS	HSMMtube	muscle
18	chr9:72286400-72288600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr9:72286600-72287600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:72286600-72287600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr9:72286600-72287600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:72286600-72287600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:72286600-72287600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:72286600-72287600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:72286600-72287600	Active TSS	Fetal Brain Male	brain
26	chr9:72286600-72287800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr9:72286600-72288000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:72286600-72288000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:72286600-72288000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr9:72286600-72288000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr9:72286600-72288000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:72286600-72288000	Active TSS	Gastric	stomach
33	chr9:72286600-72288000	Active TSS	NHDF-Ad	bronchial
34	chr9:72286600-72288200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr9:72286600-72288200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:72286600-72288200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr9:72286600-72288200	Active TSS	Brain Angular Gyrus	brain
38	chr9:72286600-72288200	Active TSS	Fetal Lung	lung
39	chr9:72286600-72288200	Active TSS	Left Ventricle	heart
40	chr9:72286600-72288200	Bivalent/Poised TSS	Thymus	Thymus
41	chr9:72286600-72288400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr9:72286600-72288400	Active TSS	Fetal Kidney	kidney
43	chr9:72286600-72288400	Active TSS	Ovary	ovary
44	chr9:72286600-72288400	Active TSS	Psoas Muscle	Psoas
45	chr9:72286600-72288400	Active TSS	Right Atrium	heart
46	chr9:72286600-72288400	Active TSS	Right Ventricle	heart
47	chr9:72286600-72288600	Active TSS	Brain Anterior Caudate	brain
48	chr9:72286600-72288600	Active TSS	Fetal Brain Female	brain
49	chr9:72286800-72287600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:72286800-72287600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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