Variant report

Variant	rs559167700
Chromosome Location	chr9:43134041-43134042
allele	A/C
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	TAF1	chr9:43133391-43134225	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB33	chr9:43133513-43134073	HepG2	liver:	n/a	n/a
3	FOXM1	chr9:43133477-43134100	GM12878	blood:	n/a	n/a
4	SP1	chr9:43133495-43134144	A549	lung:	n/a	chr9:43133946-43133955 chr9:43134110-43134124 chr9:43134086-43134100
5	TBP	chr9:43133654-43134077	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr9:43133980-43134130	GM12869	blood:	n/a	n/a
7	NR3C1	chr9:43132959-43134725	A549	lung:	n/a	chr9:43134293-43134311 chr9:43134489-43134505 chr9:43134490-43134505 chr9:43134490-43134504
8	POLR2A	chr9:43133515-43134879	A549	lung:	n/a	n/a
9	CTCF	chr9:43134040-43134190	GM12864	blood:	n/a	n/a
10	TAF1	chr9:43133249-43134314	H1-hESC	embryonic stem cell:	n/a	n/a
11	EBF1	chr9:43133590-43134160	GM12878	blood:	n/a	chr9:43133862-43133873 chr9:43133798-43133809
12	POU2F2	chr9:43133525-43134672	GM12891	blood:	n/a	chr9:43134326-43134338
13	PAX5	chr9:43133166-43134249	GM12878	blood:	n/a	n/a
14	FOSL2	chr9:43132958-43135150	HepG2	liver:	n/a	chr9:43133948-43133957 chr9:43134391-43134400
15	CTCF	chr9:43133689-43134066	A549	lung:	n/a	n/a
16	TCF12	chr9:43133530-43134559	GM12878	blood:	n/a	n/a
17	EBF1	chr9:43133509-43135167	GM12878	blood:	n/a	chr9:43133862-43133873 chr9:43133798-43133809
18	RAD21	chr9:43133690-43134046	H1-hESC	embryonic stem cell:	n/a	chr9:43133827-43133841
19	POLR2A	chr9:43133420-43134170	PANC-1	pancreas:	n/a	n/a
20	NR3C1	chr9:43133543-43134732	A549	lung:	n/a	chr9:43134293-43134311 chr9:43134489-43134505 chr9:43134490-43134505 chr9:43134490-43134504
21	REST	chr9:43133515-43134906	PANC-1	pancreas:	n/a	chr9:43134679-43134692 chr9:43133947-43133960
22	POLR2A	chr9:43133814-43134243	A549	lung:	n/a	n/a
23	CTCF	chr9:43133403-43134098	A549	lung:	n/a	n/a
24	CTCF	chr9:43133300-43134054	A549	lung:	n/a	n/a
25	JUND	chr9:43133111-43134090	HepG2	liver:	n/a	chr9:43133948-43133957
26	SPI1	chr9:43134001-43134593	GM12878	blood:	n/a	n/a
27	SMC3	chr9:43133693-43134083	SK-N-SH	brain:	n/a	chr9:43133818-43133828
28	PAX5	chr9:43133019-43135192	GM12878	blood:	n/a	n/a
29	RAD21	chr9:43133681-43134052	H1-hESC	embryonic stem cell:	n/a	chr9:43133827-43133841
30	MYBL2	chr9:43133491-43134070	HepG2	liver:	n/a	n/a
31	TCF12	chr9:43133987-43134166	GM12878	blood:	n/a	n/a
32	POLR2A	chr9:43133409-43134258	GM12878	blood:	n/a	n/a
33	IRF4	chr9:43133510-43134679	GM12878	blood:	n/a	n/a
34	REST	chr9:43133575-43134082	H1-hESC	embryonic stem cell:	n/a	chr9:43133947-43133960
35	RAD21	chr9:43133690-43134082	SK-N-SH	brain:	n/a	chr9:43133827-43133841
36	FOXA2	chr9:43133021-43134267	A549	lung:	n/a	n/a
37	PAX5	chr9:43133158-43134635	GM12878	blood:	n/a	n/a
38	POU2F2	chr9:43132958-43134647	GM12891	blood:	n/a	chr9:43134326-43134338
39	RXRA	chr9:43133532-43134109	HepG2	liver:	n/a	n/a
40	CTCF	chr9:43133980-43134130	HRPEpiC	eye:	n/a	n/a
41	BCL11A	chr9:43133555-43134098	GM12878	blood:	n/a	n/a
42	POLR2A	chr9:43133805-43134338	A549	lung:	n/a	n/a
43	CTCF	chr9:43133400-43134166	K562	blood:	n/a	n/a
44	POLR2A	chr9:43133356-43134644	H1-hESC	embryonic stem cell:	n/a	n/a
45	BCL11A	chr9:43133803-43134053	GM12878	blood:	n/a	n/a
46	HEY1	chr9:43133809-43134080	K562	blood:	n/a	n/a
47	CTCF	chr9:43134020-43134170	GM12871	blood:	n/a	n/a
48	CTCF	chr9:43133607-43134062	GM12878	blood:	n/a	n/a
49	SP1	chr9:43133207-43134121	GM12878	blood:	n/a	chr9:43133946-43133955 chr9:43134086-43134100
50	POU2F2	chr9:43133061-43135339	GM12878	blood:	n/a	chr9:43134326-43134338 chr9:43135290-43135311

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:43134033-43134083	GM19239	blood:	n/a
2	chr9:43134033-43134083	SK-N-SH_RA	brain:	n/a
3	chr9:43134033-43134083	LNCaP	prostate:	n/a
4	chr9:43134033-43134083	MCF10A-Er-Src	breast:	n/a
5	chr9:43134033-43134083	HUVEC	blood vessel:	n/a
6	chr9:43134033-43134083	NHBE	bronchial:	n/a
7	chr9:43134033-43134083	HAEpiC	amniotic membrane:	n/a
8	chr9:43134033-43134083	HRE	kidney:	n/a
9	chr9:43134033-43134083	Hela-S3	cervix:	n/a
10	chr9:43134033-43134083	BE2_C	brain:	n/a
11	chr9:43134033-43134083	AG10803	skin:	n/a
12	chr9:43134033-43134083	NT2-D1	testis:	n/a
13	chr9:43134033-43134083	GM06990	blood:	n/a
14	chr9:43134033-43134083	HCT-116	colon:	n/a
15	chr9:43134033-43134083	H1-hESC	embryonic stem cell:	embryo
16	chr9:43134033-43134083	HIPEpiC	eye:	n/a
17	chr9:43134033-43134083	HNPCEpiC	eye:	n/a
18	chr9:43134033-43134083	IMR90	lung:	fetal
19	chr9:43134033-43134083	HRCEpiC	kidney:	n/a
20	chr9:43134033-43134083	AoSMC	blood vessel:	n/a
21	chr9:43134033-43134083	Caco-2	colon:	n/a
22	chr9:43134033-43134083	BJ	skin:	n/a
23	chr9:43134033-43134083	AG09319	gingival:	n/a
24	chr9:43134033-43134083	SKMC	muscle:	n/a
25	chr9:43134033-43134083	NH-A	brain:	n/a
26	chr9:43134033-43134083	AG04449	skin:	fetal
27	chr9:43134033-43134083	A549	lung:	n/a
28	chr9:43134033-43134083	Jurkat	blood:	n/a
29	chr9:43134033-43134083	HPAEpiC	pulmonary alveolar:	n/a
30	chr9:43134033-43134083	SK-N-SH	brain:	n/a
31	chr9:43134033-43134083	AG04450	lung:	fetal
32	chr9:43134033-43134083	HMEC	breast:	n/a
33	chr9:43134033-43134083	SK-N-MC	brain:	n/a
34	chr9:43134033-43134083	K562	blood:	n/a
35	chr9:43134033-43134083	GM12891	blood:	n/a
36	chr9:43134033-43134083	U87	brain:	n/a
37	chr9:43134033-43134083	CMK	blood:	n/a
38	chr9:43134033-43134083	AG09309	skin:	n/a
39	chr9:43134033-43134083	ECC-1	luminal epithelium:	n/a
40	chr9:43134033-43134083	ovcar-3	ovarian:	n/a
41	chr9:43134033-43134083	NB4	blood:	n/a
42	chr9:43134033-43134083	Hepatocyte	liver:	n/a
43	chr9:43134033-43134083	HCM	heart:	n/a
44	chr9:43134033-43134083	HEK293	kidney:	embryo
45	chr9:43134033-43134083	T-47D	breast:	n/a
46	chr9:43134033-43134083	HepG2	liver:	n/a
47	chr9:43134033-43134083	HCF	heart:	n/a
48	chr9:43134033-43134083	NHDF-neo	bronchial:	n/a
49	chr9:43134033-43134083	HL-60	blood:	n/a
50	chr9:43134033-43134083	SAEC	small airway:	n/a

Variant related genes	Relation type
ANKRD20A3	TF binding region
ENSG00000232866	TF binding region
ENSG00000232866	CpG island
ANKRD20A3	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826083	chr9:42228512-43187726	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv1822891	chr9:42316318-43198208	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv982243	chr9:42995364-43160734	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv893173	chr9:43034822-43998470	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv1829975	chr9:43045290-43831337	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1032639	chr9:43064834-43701826	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1025182	chr9:43064834-43705240	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1027611	chr9:43064834-43747241	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1027107	chr9:43064834-43776906	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1034498	chr9:43064834-43780897	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv1019827	chr9:43064834-43790334	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv1030625	chr9:43064834-43800174	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv1033674	chr9:43127213-43776906	Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1016572	chr9:43127213-43800174	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
15	esv3324910	chr9:43132981-43135529	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43133000-43134200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:43133000-43134200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:43133000-43134200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:43133000-43134800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:43133000-43135000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:43133000-43135000	Active TSS	Brain Germinal Matrix	brain
7	chr9:43133200-43134200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr9:43133200-43134200	Active TSS	Brain Angular Gyrus	brain
9	chr9:43133200-43134200	Active TSS	Esophagus	oesophagus
10	chr9:43133200-43134200	Active TSS	Right Ventricle	heart
11	chr9:43133800-43134200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:43133800-43134200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:43133800-43134200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr9:43133800-43134200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr9:43133800-43134200	Enhancers	Primary hematopoietic stem cells	blood
16	chr9:43133800-43134200	Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr9:43133800-43134200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr9:43133800-43134200	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr9:43133800-43134200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr9:43133800-43134200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr9:43133800-43134200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:43133800-43134200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:43133800-43134200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:43133800-43134200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr9:43133800-43134200	Active TSS	Brain Hippocampus Middle	brain
26	chr9:43133800-43134200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr9:43133800-43134200	Active TSS	Duodenum Mucosa	Duodenum
28	chr9:43133800-43134200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr9:43133800-43134200	Active TSS	Rectal Smooth Muscle	rectum
30	chr9:43133800-43134200	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr9:43133800-43134200	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr9:43133800-43134200	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr9:43133800-43134200	Active TSS	Stomach Smooth Muscle	stomach
34	chr9:43133800-43134200	Active TSS	Thymus	Thymus
35	chr9:43133800-43134200	Active TSS	HepG2	liver
36	chr9:43133800-43134200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
37	chr9:43133800-43134200	Active TSS	NH-A	brain
38	chr9:43133800-43134400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:43133800-43134400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr9:43133800-43134400	Active TSS	Brain Anterior Caudate	brain
41	chr9:43133800-43134400	Active TSS	Colonic Mucosa	Colon
42	chr9:43133800-43134600	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr9:43133800-43134800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr9:43133800-43135000	Active TSS	Brain Cingulate Gyrus	brain
45	chr9:43134000-43134200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
46	chr9:43134000-43134200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:43134000-43134200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr9:43134000-43134200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:43134000-43134200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:43134000-43134200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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