Variant report

Variant	rs558050389
Chromosome Location	chr9:44070740-44070741
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	MYC	chr9:44070666-44070768	MCF-7	breast:	n/a	n/a
2	PAX5	chr9:44070566-44070866	GM12878	blood:	n/a	n/a
3	FOXM1	chr9:44070373-44071098	GM12878	blood:	n/a	n/a
4	BATF	chr9:44070553-44070898	GM12878	blood:	n/a	n/a
5	MYC	chr9:44070656-44070778	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr9:44070736-44070762	GM12878	blood:	n/a	n/a
7	IRF4	chr9:44070424-44071017	GM12878	blood:	n/a	n/a
8	RXRA	chr9:44070562-44070900	HepG2	liver:	n/a	chr9:44070595-44070611
9	PBX3	chr9:44070606-44070796	GM12878	blood:	n/a	n/a
10	HEY1	chr9:44070611-44070902	K562	blood:	n/a	n/a
11	SP1	chr9:44070440-44070843	HepG2	liver:	n/a	chr9:44070486-44070507 chr9:44070735-44070746
12	TCF3	chr9:44070475-44070893	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:44070577-44070869	GM12878	blood:	n/a	n/a
14	CEBPD	chr9:44070455-44070965	K562	blood:	n/a	n/a
15	CTCF	chr9:44070688-44070806	Spleen_OC	spleen:	n/a	n/a
16	SIX5	chr9:44070419-44070841	GM12878	blood:	n/a	n/a
17	POLR2A	chr9:44070630-44070819	H1-hESC	embryonic stem cell:	n/a	n/a
18	SPI1	chr9:44070524-44071030	GM12878	blood:	n/a	n/a
19	SP1	chr9:44070503-44070911	GM12878	blood:	n/a	chr9:44070735-44070746
20	CTCF	chr9:44070632-44070916	K562	blood:	n/a	n/a
21	POU2F2	chr9:44070446-44071005	GM12878	blood:	n/a	chr9:44070569-44070590
22	CTCF	chr9:44070620-44070770	HPAF	blood vessel:	n/a	n/a
23	GATA2	chr9:44070239-44070893	K562	blood:	n/a	chr9:44070292-44070299 chr9:44070288-44070304 chr9:44070292-44070299 chr9:44070285-44070306 chr9:44070292-44070299
24	POLR2A	chr9:44070378-44070973	SK-N-MC	brain:	n/a	n/a
25	TAF1	chr9:44070523-44070912	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr9:44070545-44070936	A549	lung:	n/a	n/a
27	POLR2A	chr9:44070532-44070993	PANC-1	pancreas:	n/a	n/a
28	CTCF	chr9:44070660-44070810	HCM	heart:	n/a	n/a
29	CTCF	chr9:44070640-44070790	GM12801	blood:	n/a	n/a
30	SP1	chr9:44070633-44070849	H1-hESC	embryonic stem cell:	n/a	chr9:44070735-44070746
31	JUND	chr9:44070540-44070850	HepG2	liver:	n/a	n/a
32	CTCF	chr9:44070681-44070799	Medullo	brain:	n/a	n/a
33	SIN3AK20	chr9:44070665-44070817	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr9:44070686-44070780	GM19240	blood:	n/a	n/a
35	SP1	chr9:44070623-44070859	H1-hESC	embryonic stem cell:	n/a	chr9:44070735-44070746
36	USF1	chr9:44070584-44070796	HepG2	liver:	n/a	n/a
37	HEY1	chr9:44070565-44070819	K562	blood:	n/a	n/a
38	SP1	chr9:44070606-44070785	HepG2	liver:	n/a	chr9:44070735-44070746
39	CTCF	chr9:44070640-44070790	GM12867	blood:	n/a	n/a
40	SIN3AK20	chr9:44070586-44070882	HepG2	liver:	n/a	n/a
41	FOSL2	chr9:44070481-44070961	HepG2	liver:	n/a	n/a
42	CTCF	chr9:44070738-44070759	GM12878	blood:	n/a	n/a
43	FOXP2	chr9:44070617-44070840	SK-N-MC	brain:	n/a	n/a
44	NANOG	chr9:44070648-44070832	H1-hESC	embryonic stem cell:	n/a	n/a
45	SPI1	chr9:44070551-44070884	K562	blood:	n/a	n/a
46	CTCF	chr9:44070640-44070790	GM12864	blood:	n/a	n/a
47	CTCF	chr9:44070670-44070783	Gliobla	brain:	n/a	n/a
48	CTCF	chr9:44070693-44070767	Fibrobl	skin:	n/a	n/a
49	GTF2F1	chr9:44070584-44070957	H1-hESC	embryonic stem cell:	n/a	n/a
50	TCF12	chr9:44070553-44070881	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000170165	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv436621	chr9:43145796-44122367	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1030874	chr9:43315962-44114860	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1021270	chr9:43315962-44145340	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1024462	chr9:43315962-44205637	Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1029200	chr9:43437359-44214733	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1015727	chr9:43505840-44114860	Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1025269	chr9:43505840-44136778	Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1029217	chr9:43505840-44145340	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1027371	chr9:43505840-44273229	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1032592	chr9:43505840-44396915	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1021421	chr9:43505840-44469316	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	esv2753911	chr9:43530395-44466984	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	esv2756103	chr9:43530395-44466984	Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv1015636	chr9:43612150-44145340	ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Strong transcription	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1029109	chr9:43612150-44273229	ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv1026029	chr9:43612150-44446124	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv1029916	chr9:43612150-44466205	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
18	nsv1034880	chr9:43612150-44469316	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
19	nsv1016609	chr9:43654127-44241805	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv1016330	chr9:43654127-44273229	Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv1030605	chr9:43654127-44469316	Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv1019786	chr9:43675599-44469316	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv1024443	chr9:43700866-44469316	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv1020552	chr9:43726990-44273229	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv1018992	chr9:43726990-44469316	Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv1015988	chr9:43734207-44469316	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
27	nsv1034869	chr9:43757334-44739032	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
28	nsv1018198	chr9:43772038-44469316	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
29	nsv1026263	chr9:43776906-44469316	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
30	nsv1029361	chr9:43800174-44273229	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
31	esv1828893	chr9:43936609-44463095	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
32	esv1822441	chr9:43941952-44475321	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
33	nsv968643	chr9:43997036-44139152	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
34	esv1821075	chr9:44015421-44475321	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
35	esv1833488	chr9:44046700-44821943	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
36	nsv969592	chr9:44070279-44072916	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:44070600-44070800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:44070600-44070800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:44070600-44070800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
4	chr9:44070600-44070800	ZNF genes & repeats	Primary T cells from cord blood	blood
5	chr9:44070600-44070800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:44070600-44070800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr9:44070600-44070800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
8	chr9:44070600-44070800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
9	chr9:44070600-44070800	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
10	chr9:44070600-44070800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:44070600-44070800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
12	chr9:44070600-44070800	Enhancers	Adipose Nuclei	Adipose
13	chr9:44070600-44070800	Bivalent Enhancer	Aorta	Aorta
14	chr9:44070600-44070800	Active TSS	Brain Anterior Caudate	brain
15	chr9:44070600-44070800	ZNF genes & repeats	Colonic Mucosa	Colon
16	chr9:44070600-44070800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
17	chr9:44070600-44070800	Enhancers	Right Ventricle	heart
18	chr9:44070600-44071000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:44070600-44071000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:44070600-44071000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:44070600-44071000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr9:44070600-44071000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr9:44070600-44071000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr9:44070600-44071000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr9:44070600-44071000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr9:44070600-44071000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:44070600-44071000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:44070600-44071000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:44070600-44071000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr9:44070600-44071000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr9:44070600-44071000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr9:44070600-44071000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
37	chr9:44070600-44071000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
38	chr9:44070600-44071000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
39	chr9:44070600-44071000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
40	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
42	chr9:44070600-44071000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:44070600-44071000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
45	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Liver	Liver
46	chr9:44070600-44071000	ZNF genes & repeats	Brain Hippocampus Middle	brain
47	chr9:44070600-44071000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
48	chr9:44070600-44071000	ZNF genes & repeats	Colon Smooth Muscle	Colon
49	chr9:44070600-44071000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr9:44070600-44071000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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