Variant report

Variant	rs11262162
Chromosome Location	chr9:43133880-43133881
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	CTCF	chr9:43133644-43133893	HepG2	liver:	n/a	n/a
4	SMC3	chr9:43133618-43134012	GM12878	blood:	n/a	chr9:43133818-43133828
5	CTCF	chr9:43133780-43133930	HRE	kidney:	n/a	n/a
6	CTCF	chr9:43133760-43133910	GM12872	blood:	n/a	n/a
7	CTCF	chr9:43133760-43133910	HMEC	breast:	n/a	n/a
8	CTCF	chr9:43133760-43133910	SAEC	small airway:	n/a	n/a
9	FOXM1	chr9:43133477-43134100	GM12878	blood:	n/a	n/a
10	SP1	chr9:43133495-43134144	A549	lung:	n/a	chr9:43133946-43133955 chr9:43134110-43134124 chr9:43134086-43134100
11	HEY1	chr9:43133509-43134026	K562	blood:	n/a	n/a
12	CTCF	chr9:43133651-43133914	GM13976	blood:	n/a	n/a
13	BHLHE40	chr9:43133559-43133930	HepG2	liver:	n/a	n/a
14	RAD21	chr9:43133686-43133917	HepG2	liver:	n/a	chr9:43133827-43133841
15	CTCF	chr9:43133760-43133910	WERI-Rb-1	eye:	n/a	n/a
16	TBP	chr9:43133654-43134077	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr9:43133630-43133966	GM12891	blood:	n/a	n/a
18	CTCF	chr9:43133629-43133932	Kidney_OC	kidney:	n/a	n/a
19	RXRA	chr9:43133571-43133974	HepG2	liver:	n/a	n/a
20	NR3C1	chr9:43132959-43134725	A549	lung:	n/a	chr9:43134293-43134311 chr9:43134489-43134505 chr9:43134490-43134505 chr9:43134490-43134504
21	POLR2A	chr9:43133515-43134879	A549	lung:	n/a	n/a
22	RAD21	chr9:43133644-43134004	HepG2	liver:	n/a	chr9:43133827-43133841
23	FOXA2	chr9:43133543-43134017	A549	lung:	n/a	n/a
24	TAF1	chr9:43133249-43134314	H1-hESC	embryonic stem cell:	n/a	n/a
25	EBF1	chr9:43133590-43134160	GM12878	blood:	n/a	chr9:43133862-43133873 chr9:43133798-43133809
26	CTCF	chr9:43133780-43133930	SAEC	small airway:	n/a	n/a
27	POU2F2	chr9:43133525-43134672	GM12891	blood:	n/a	chr9:43134326-43134338
28	CTCF	chr9:43133740-43133890	RPTEC	kidney:	n/a	n/a
29	PAX5	chr9:43133166-43134249	GM12878	blood:	n/a	n/a
30	CTCF	chr9:43133780-43133930	HepG2	liver:	n/a	n/a
31	CTCF	chr9:43133740-43133890	HCM	heart:	n/a	n/a
32	RAD21	chr9:43133643-43133999	IMR90	lung:	n/a	chr9:43133827-43133841
33	CTCF	chr9:43133670-43133904	GM20000	blood:	n/a	n/a
34	FOSL2	chr9:43132958-43135150	HepG2	liver:	n/a	chr9:43133948-43133957 chr9:43134391-43134400
35	CTCF	chr9:43133740-43133890	GM12871	blood:	n/a	n/a
36	PBX3	chr9:43133517-43133982	GM12878	blood:	n/a	n/a
37	CTCF	chr9:43133760-43133910	BJ	skin:	n/a	n/a
38	CTCF	chr9:43133740-43133890	NHLF	lung:	n/a	n/a
39	CTCF	chr9:43133760-43133910	HEK293	kidney:	n/a	n/a
40	SIN3A	chr9:43133779-43134026	H1-hESC	embryonic stem cell:	n/a	n/a
41	EBF1	chr9:43133647-43134017	GM12878	blood:	n/a	chr9:43133862-43133873 chr9:43133798-43133809
42	CTCF	chr9:43133689-43134066	A549	lung:	n/a	n/a
43	TCF12	chr9:43133530-43134559	GM12878	blood:	n/a	n/a
44	EBF1	chr9:43133509-43135167	GM12878	blood:	n/a	chr9:43133862-43133873 chr9:43133798-43133809
45	CTCF	chr9:43133614-43133996	K562	blood:	n/a	n/a
46	RAD21	chr9:43133690-43134046	H1-hESC	embryonic stem cell:	n/a	chr9:43133827-43133841
47	POLR2A	chr9:43133420-43134170	PANC-1	pancreas:	n/a	n/a
48	NR3C1	chr9:43133543-43134732	A549	lung:	n/a	chr9:43134293-43134311 chr9:43134489-43134505 chr9:43134490-43134505 chr9:43134490-43134504
49	MAZ	chr9:43133622-43134018	GM12878	blood:	n/a	n/a
50	CTCF	chr9:43133633-43133941	LNCaP	prostate:	n/a	n/a

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

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:56 , 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	chr9:43133200-43134000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr9:43133200-43134000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:43133200-43134200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr9:43133200-43134200	Active TSS	Brain Angular Gyrus	brain
11	chr9:43133200-43134200	Active TSS	Esophagus	oesophagus
12	chr9:43133200-43134200	Active TSS	Right Ventricle	heart
13	chr9:43133800-43134000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr9:43133800-43134000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:43133800-43134000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:43133800-43134000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr9:43133800-43134000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:43133800-43134000	Active TSS	Fetal Intestine Large	intestine
19	chr9:43133800-43134000	Active TSS	Fetal Muscle Leg	muscle
20	chr9:43133800-43134000	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr9:43133800-43134000	Active TSS	HMEC	breast
22	chr9:43133800-43134000	Active TSS	NHEK	skin
23	chr9:43133800-43134200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:43133800-43134200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:43133800-43134200	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr9:43133800-43134200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr9:43133800-43134200	Enhancers	Primary hematopoietic stem cells	blood
28	chr9:43133800-43134200	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr9:43133800-43134200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr9:43133800-43134200	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr9:43133800-43134200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr9:43133800-43134200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr9:43133800-43134200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:43133800-43134200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:43133800-43134200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:43133800-43134200	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr9:43133800-43134200	Active TSS	Brain Hippocampus Middle	brain
38	chr9:43133800-43134200	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr9:43133800-43134200	Active TSS	Duodenum Mucosa	Duodenum
40	chr9:43133800-43134200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr9:43133800-43134200	Active TSS	Rectal Smooth Muscle	rectum
42	chr9:43133800-43134200	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr9:43133800-43134200	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr9:43133800-43134200	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr9:43133800-43134200	Active TSS	Stomach Smooth Muscle	stomach
46	chr9:43133800-43134200	Active TSS	Thymus	Thymus
47	chr9:43133800-43134200	Active TSS	HepG2	liver
48	chr9:43133800-43134200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
49	chr9:43133800-43134200	Active TSS	NH-A	brain
50	chr9:43133800-43134400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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