Variant report

Variant	rs551216130
Chromosome Location	chr9:72286906-72286907
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	CTCF	chr9:72286840-72286990	HPAF	blood vessel:	n/a	n/a
2	MAX	chr9:72286708-72288222	SK-N-SH	brain:	n/a	chr9:72287424-72287434
3	CTCF	chr9:72286780-72286930	AG09309	skin:	n/a	n/a
4	YY1	chr9:72286772-72287303	ECC-1	luminal epithelium:	n/a	chr9:72287253-72287264 chr9:72287080-72287094
5	CTBP2	chr9:72286573-72287153	H1-hESC	embryonic stem cell:	n/a	n/a
6	PAX5	chr9:72286748-72286995	GM12892	blood:	n/a	n/a
7	CTCF	chr9:72286760-72286910	AG04450	lung:	n/a	n/a
8	POLR2A	chr9:72286150-72288240	H1-neurons	neurons:	n/a	n/a
9	CTCF	chr9:72286840-72286990	AG10803	skin:	n/a	n/a
10	CTCF	chr9:72286900-72287050	SAEC	small airway:	n/a	n/a
11	CTCF	chr9:72286860-72287010	NHDF-neo	bronchial:	n/a	n/a
12	TAF1	chr9:72286695-72287270	H1-neurons	neurons:	n/a	n/a
13	CTCF	chr9:72286840-72286990	BJ	skin:	n/a	n/a
14	CTCF	chr9:72286832-72286981	Fibrobl	skin:	n/a	n/a
15	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
16	SIN3AK20	chr9:72286680-72286970	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr9:72286900-72287050	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr9:72286900-72287050	GM12864	blood:	n/a	n/a
19	SMC3	chr9:72286221-72288597	SK-N-SH	brain:	n/a	chr9:72286908-72286918 chr9:72287103-72287113
20	ZBTB7A	chr9:72286742-72287140	ECC-1	luminal epithelium:	n/a	n/a
21	CTCF	chr9:72286901-72286990	NHEK	skin:	n/a	n/a
22	CTCF	chr9:72286880-72287030	HFF	foreskin:	n/a	n/a
23	POLR2A	chr9:72286861-72287025	MCF-7	breast:	n/a	n/a
24	CTCF	chr9:72286746-72287153	IMR90	lung:	n/a	n/a
25	RAD21	chr9:72286790-72287141	SK-N-SH_RA	brain:	n/a	chr9:72286908-72286918
26	CTCF	chr9:72286760-72286910	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr9:72286880-72287030	HMEC	breast:	n/a	n/a
28	CTCF	chr9:72286900-72287050	AG09319	gingival:	n/a	n/a
29	MYC	chr9:72286880-72287178	MCF-7	breast:	n/a	n/a
30	TBP	chr9:72286896-72287016	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr9:72286780-72286930	HEK293	kidney:	n/a	n/a
32	REST	chr9:72286572-72287295	H1-neurons	neurons:	n/a	chr9:72287119-72287126
33	CTCF	chr9:72286860-72287010	HRPEpiC	eye:	n/a	n/a
34	MAZ	chr9:72286272-72288380	IMR90	lung:	n/a	chr9:72287424-72287434 chr9:72286293-72286302
35	POLR2A	chr9:72286082-72288205	H1-neurons	neurons:	n/a	n/a
36	YY1	chr9:72286809-72287219	H1-hESC	embryonic stem cell:	n/a	chr9:72287080-72287094
37	CTCF	chr9:72286840-72286990	HAc	cerebellar:	n/a	n/a
38	EP300	chr9:72286883-72288192	ECC-1	luminal epithelium:	n/a	chr9:72288031-72288047
39	SIN3A	chr9:72286562-72287271	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr9:72286780-72286930	AG09319	gingival:	n/a	n/a
41	CTCF	chr9:72286887-72286925	ProgFib	skin:	n/a	n/a
42	RAD21	chr9:72285926-72288545	SK-N-SH	brain:	n/a	chr9:72287629-72287643 chr9:72286908-72286918 chr9:72287509-72287523 chr9:72287335-72287348
43	CTCF	chr9:72286900-72287050	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr9:72286860-72287010	GM12864	blood:	n/a	n/a
45	TAF1	chr9:72286580-72288270	H1-neurons	neurons:	n/a	n/a
46	CTCF	chr9:72286899-72287238	MCF-7	breast:	n/a	n/a
47	CTCF	chr9:72286840-72286990	HBMEC	blood vessel:	n/a	n/a
48	YY1	chr9:72286885-72287301	H1-hESC	embryonic stem cell:	n/a	chr9:72287253-72287264 chr9:72287080-72287094
49	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	chr9:72286195..72289118-chr9:72373474..72376010,3	MCF-7	breast:

Variant related genes	Relation type
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: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	chr9:72286000-72287000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr9:72286000-72287600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr9:72286000-72288200	Active TSS	Brain Substantia Nigra	brain
5	chr9:72286200-72287000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr9:72286200-72287000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
7	chr9:72286200-72287000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr9:72286200-72287000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr9:72286200-72287200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
10	chr9:72286200-72287200	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr9:72286200-72287600	Active TSS	Osteobl	bone
12	chr9:72286200-72288000	Active TSS	Colonic Mucosa	Colon
13	chr9:72286200-72288200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr9:72286200-72288200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr9:72286200-72288600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:72286400-72287000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
17	chr9:72286400-72287000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
18	chr9:72286400-72287000	Flanking Active TSS	Esophagus	oesophagus
19	chr9:72286400-72287200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr9:72286400-72287200	Flanking Active TSS	Placenta	Placenta
21	chr9:72286400-72287600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr9:72286400-72287600	Active TSS	Primary T cells from cord blood	blood
23	chr9:72286400-72287800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr9:72286400-72288000	Active TSS	Rectal Smooth Muscle	rectum
25	chr9:72286400-72288000	Active TSS	HSMM	muscle
26	chr9:72286400-72288200	Active TSS	Brain Cingulate Gyrus	brain
27	chr9:72286400-72288200	Active TSS	Brain Hippocampus Middle	brain
28	chr9:72286400-72288400	Active TSS	Aorta	Aorta
29	chr9:72286400-72288400	Active TSS	HSMMtube	muscle
30	chr9:72286400-72288600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr9:72286600-72287000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:72286600-72287000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr9:72286600-72287000	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr9:72286600-72287000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr9:72286600-72287000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:72286600-72287000	Flanking Active TSS	Lung	lung
37	chr9:72286600-72287000	Flanking Active TSS	Pancreas	Pancrea
38	chr9:72286600-72287000	Flanking Bivalent TSS/Enh	Spleen	Spleen
39	chr9:72286600-72287200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr9:72286600-72287200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr9:72286600-72287200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
42	chr9:72286600-72287200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr9:72286600-72287200	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr9:72286600-72287200	Flanking Active TSS	HMEC	breast
45	chr9:72286600-72287600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:72286600-72287600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr9:72286600-72287600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:72286600-72287600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:72286600-72287600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:72286600-72287600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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