Variant report

Variant	rs544003902
Chromosome Location	chr9:101471959-101471960
allele	G/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	RAD21	chr9:101471813-101472203	H1-hESC	embryonic stem cell:	n/a	chr9:101472046-101472060 chr9:101472042-101472061
2	REST	chr9:101471019-101472181	ECC-1	luminal epithelium:	n/a	chr9:101471384-101471394 chr9:101471411-101471424
3	CTCF	chr9:101471920-101472070	GM12875	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
4	CTCF	chr9:101471900-101472050	BE2_C	brain:	n/a	chr9:101471978-101471991
5	CTCF	chr9:101471891-101472118	K562	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
6	CTCF	chr9:101471900-101472050	GM12874	blood:	n/a	chr9:101471978-101471991
7	RAD21	chr9:101471607-101472293	H1-hESC	embryonic stem cell:	n/a	chr9:101472046-101472060 chr9:101472042-101472061 chr9:101471608-101471622
8	RAD21	chr9:101471855-101472204	H1-hESC	embryonic stem cell:	n/a	chr9:101472046-101472060 chr9:101472042-101472061
9	CTCF	chr9:101471905-101472156	H1-hESC	embryonic stem cell:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
10	CTCF	chr9:101471956-101472148	K562	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
11	RAD21	chr9:101471916-101472115	K562	blood:	n/a	chr9:101472046-101472060 chr9:101472042-101472061
12	CTCF	chr9:101471880-101472030	GM12873	blood:	n/a	chr9:101471978-101471991
13	CTCF	chr9:101471893-101472229	H1-hESC	embryonic stem cell:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
14	CTCF	chr9:101471946-101472148	K562	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
15	CTCF	chr9:101471880-101472275	K562	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
16	POLR2A	chr9:101470975-101472120	H1-neurons	neurons:	n/a	n/a
17	CTCF	chr9:101471935-101472165	H1-hESC	embryonic stem cell:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
18	CTCF	chr9:101471940-101472090	WERI-Rb-1	eye:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
19	CTCF	chr9:101471900-101472050	WERI-Rb-1	eye:	n/a	chr9:101471978-101471991
20	CTBP2	chr9:101471646-101472175	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr9:101470992-101472124	H1-neurons	neurons:	n/a	chr9:101471384-101471394 chr9:101471411-101471424
22	BACH1	chr9:101471747-101472017	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr9:101471880-101472030	HEK293	kidney:	n/a	chr9:101471978-101471991
24	CTCF	chr9:101471880-101472030	HUVEC	blood vessel:	n/a	chr9:101471978-101471991
25	CTCF	chr9:101471881-101472173	K562	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
26	REST	chr9:101471070-101473423	HL-60	blood:	n/a	chr9:101471384-101471394 chr9:101472860-101472869 chr9:101472855-101472864 chr9:101471411-101471424 chr9:101472849-101472869 chr9:101472373-101472391 chr9:101472849-101472869 chr9:101472931-101472944 chr9:101472856-101472869
27	ZNF263	chr9:101471138-101473084	HEK293-T-REx	kidney:	n/a	n/a
28	TBP	chr9:101471637-101472013	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:101471921-101471971	AG04450	lung:	fetal
2	chr9:101471921-101471971	GM19239	blood:	n/a
3	chr9:101471921-101471971	HEK293	kidney:	embryo
4	chr9:101471921-101471971	HCM	heart:	n/a
5	chr9:101471921-101471971	HAEpiC	amniotic membrane:	n/a
6	chr9:101471921-101471971	SK-N-MC	brain:	n/a
7	chr9:101471921-101471971	ECC-1	luminal epithelium:	n/a
8	chr9:101471921-101471971	PFSK-1	brain:	n/a
9	chr9:101471921-101471971	AG04449	skin:	fetal
10	chr9:101471921-101471971	PANC-1	pancreas:	n/a
11	chr9:101471921-101471971	HCT-116	colon:	n/a
12	chr9:101471921-101471971	SK-N-SH	brain:	n/a
13	chr9:101471921-101471971	PrEC	prostate:	n/a
14	chr9:101471921-101471971	SK-N-SH_RA	brain:	n/a
15	chr9:101471921-101471971	GM12891	blood:	n/a
16	chr9:101471921-101471971	HepG2	liver:	n/a
17	chr9:101471921-101471971	K562	blood:	n/a
18	chr9:101471921-101471971	BE2_C	brain:	n/a
19	chr9:101471921-101471971	Hela-S3	cervix:	n/a
20	chr9:101471921-101471971	U87	brain:	n/a
21	chr9:101471921-101471971	H1-hESC	embryonic stem cell:	embryo
22	chr9:101471921-101471971	NT2-D1	testis:	n/a
23	chr9:101471921-101471971	IMR90	lung:	fetal
24	chr9:101471921-101471971	LNCaP	prostate:	n/a
25	chr9:101471921-101471971	Caco-2	colon:	n/a
26	chr9:101471921-101471971	NHDF-neo	bronchial:	n/a
27	chr9:101471921-101471971	AG09319	gingival:	n/a
28	chr9:101471921-101471971	HMEC	breast:	n/a
29	chr9:101471921-101471971	T-47D	breast:	n/a
30	chr9:101471921-101471971	HEEpiC	esophagus:	n/a
31	chr9:101471921-101471971	Hepatocyte	liver:	n/a
32	chr9:101471921-101471971	HPAEpiC	pulmonary alveolar:	n/a
33	chr9:101471921-101471971	HCF	heart:	n/a
34	chr9:101471921-101471971	HNPCEpiC	eye:	n/a
35	chr9:101471921-101471971	ovcar-3	ovarian:	n/a
36	chr9:101471921-101471971	HRCEpiC	kidney:	n/a
37	chr9:101471921-101471971	GM12878	blood:	n/a
38	chr9:101471921-101471971	ProgFib	skin:	n/a
39	chr9:101471921-101471971	AoSMC	blood vessel:	n/a
40	chr9:101471921-101471971	HUVEC	blood vessel:	n/a
41	chr9:101471921-101471971	MCF-7	breast:	n/a
42	chr9:101471921-101471971	Jurkat	blood:	n/a
43	chr9:101471921-101471971	HIPEpiC	eye:	n/a
44	chr9:101471921-101471971	HRE	kidney:	n/a
45	chr9:101471921-101471971	NB4	blood:	n/a
46	chr9:101471921-101471971	RPTEC	kidney:	n/a
47	chr9:101471921-101471971	SAEC	small airway:	n/a
48	chr9:101471921-101471971	HCPEpiC	choroid plexus:	n/a
49	chr9:101471921-101471971	GM06990	blood:	n/a
50	chr9:101471921-101471971	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:101390132..101392094-chr9:101471584..101473721,2	MCF-7	breast:
2	chr9:101242548..101244258-chr9:101471901..101474101,2	MCF-7	breast:

Variant related genes	Relation type
GABBR2	TF binding region
GABBR2	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv893616	chr9:101371017-101472921	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv825007	chr9:101467848-101476292	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3338088	chr9:101469131-101473529	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv819653	chr9:101469511-101472192	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3498543	chr9:101469881-101473129	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3498544	chr9:101469881-101473129	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3423249	chr9:101470556-101473104	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101469200-101472000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr9:101469200-101472000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr9:101469200-101472000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr9:101469200-101472000	Active TSS	Brain Angular Gyrus	brain
5	chr9:101469200-101472200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr9:101469400-101472000	Active TSS	Brain Anterior Caudate	brain
7	chr9:101469600-101472000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr9:101469600-101472000	Bivalent/Poised TSS	A549	lung
9	chr9:101470000-101472200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr9:101470800-101472000	Active TSS	Brain Cingulate Gyrus	brain
11	chr9:101470800-101472200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr9:101470800-101472400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:101471000-101472000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:101471200-101472000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr9:101471200-101472000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:101471200-101472000	Bivalent/Poised TSS	HepG2	liver
17	chr9:101471200-101472200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:101471400-101472000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr9:101471400-101472000	Bivalent Enhancer	Lung	lung
20	chr9:101471400-101472000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
21	chr9:101471400-101472000	Bivalent/Poised TSS	K562	blood
22	chr9:101471400-101472200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:101471400-101472200	Bivalent Enhancer	Spleen	Spleen
24	chr9:101471600-101472000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:101471600-101472000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:101471600-101472000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:101471600-101472000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:101471600-101472000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:101471600-101472000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:101471600-101472000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
31	chr9:101471600-101472000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:101471600-101472000	Bivalent Enhancer	Fetal Brain Male	brain
33	chr9:101471600-101472000	Bivalent Enhancer	Fetal Stomach	stomach
34	chr9:101471600-101472000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
35	chr9:101471600-101472200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:101471600-101472200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:101471600-101472200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr9:101471600-101472200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr9:101471600-101472200	Bivalent Enhancer	Placenta	Placenta
40	chr9:101471600-101472400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr9:101471600-101472800	Enhancers	Gastric	stomach
42	chr9:101471800-101472000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr9:101471800-101472000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr9:101471800-101472000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:101471800-101472000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr9:101471800-101472000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
47	chr9:101471800-101472000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr9:101471800-101472000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:101471800-101472000	Bivalent Enhancer	Adipose Nuclei	Adipose
50	chr9:101471800-101472000	Bivalent Enhancer	Brain Hippocampus Middle	brain

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