Variant report

Variant	esv3359030
Chromosome Location	chr11:107730845-107731105
allele	n/a
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	ATF2	chr11:107730462-107731073	GM12878	blood:	n/a	n/a
2	BCL11A	chr11:107730711-107730898	GM12878	blood:	n/a	chr11:107730810-107730819
3	BCLAF1	chr11:107730616-107731043	GM12878	blood:	n/a	chr11:107730810-107730819
4	BHLHE40	chr11:107729118-107731054	GM12878	blood:	n/a	chr11:107729324-107729340
5	CHD2	chr11:107730354-107731021	GM12878	blood:	n/a	n/a
6	CUX1	chr11:107730716-107731014	GM12878	blood:	n/a	n/a
7	EBF1	chr11:107730340-107730862	GM12878	blood:	n/a	n/a
8	EBF1	chr11:107730327-107731030	GM12878	blood:	n/a	n/a
9	EBF1	chr11:107730310-107730848	GM12878	blood:	n/a	n/a
10	EP300	chr11:107730452-107730993	GM12878	blood:	n/a	chr11:107730977-107730987
11	EP300	chr11:107730596-107731026	GM12878	blood:	n/a	chr11:107730977-107730987
12	FOXA1	chr11:107730705-107731219	HepG2	liver:	n/a	chr11:107730976-107730991
13	FOXA1	chr11:107730815-107731112	HepG2	liver:	n/a	chr11:107730976-107730991
14	FOXA1	chr11:107730750-107731202	T-47D	breast:	n/a	chr11:107730976-107730991
15	FOXA1	chr11:107730694-107731157	HepG2	liver:	n/a	chr11:107730976-107730991
16	FOXA2	chr11:107730849-107731121	HepG2	liver:	n/a	n/a
17	FOXM1	chr11:107730409-107730947	GM12878	blood:	n/a	n/a
18	GATA3	chr11:107730783-107730912	SH-SY5Y	brain:	n/a	n/a
19	IKZF1	chr11:107730344-107730926	GM12878	blood:	n/a	n/a
20	MAX	chr11:107728176-107730917	HCT-116	colon:	n/a	chr11:107729315-107729322 chr11:107729341-107729350 chr11:107729314-107729323
21	MAZ	chr11:107730380-107730960	GM12878	blood:	n/a	n/a
22	MTA3	chr11:107730145-107731069	GM12878	blood:	n/a	n/a
23	MXI1	chr11:107730335-107731129	GM12878	blood:	n/a	n/a
24	MXI1	chr11:107728067-107730995	SK-N-SH	brain:	n/a	chr11:107729017-107729026
25	NFIC	chr11:107730219-107731072	GM12878	blood:	n/a	n/a
26	NFIC	chr11:107730524-107731030	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:107728320-107731018	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:107728507-107730902	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:107730255-107731119	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:107728442-107731008	GM12891	blood:	n/a	n/a
31	POU2F2	chr11:107730373-107731107	GM12878	blood:	n/a	chr11:107730898-107730913
32	RCOR1	chr11:107730661-107731066	GM12878	blood:	n/a	n/a
33	RUNX3	chr11:107730235-107731033	GM12878	blood:	n/a	n/a
34	RUNX3	chr11:107730277-107731051	GM12878	blood:	n/a	n/a
35	SMC3	chr11:107730601-107730918	GM12878	blood:	n/a	n/a
36	SP1	chr11:107730579-107731012	GM12878	blood:	n/a	n/a
37	STAT3	chr11:107730638-107731046	GM12878	blood:	n/a	n/a
38	STAT5A	chr11:107730323-107730998	GM12878	blood:	n/a	n/a
39	TBL1XR1	chr11:107730335-107731027	GM12878	blood:	n/a	n/a
40	TBP	chr11:107730674-107730997	GM12878	blood:	n/a	n/a
41	TCF12	chr11:107730469-107730931	GM12878	blood:	n/a	n/a
42	TCF12	chr11:107730585-107730957	GM12878	blood:	n/a	n/a
43	ZNF384	chr11:107729482-107731027	GM12878	blood:	n/a	n/a
44	ZNF384	chr11:107729367-107730856	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107728941..107731899-chr11:107878493..107880123,2	K562	blood:
2	chr11:107459711..107461881-chr11:107729122..107732071,2	K562	blood:

Variant related genes	Relation type
SLC35F2	TF binding region
ENSG00000166266	chromatin interactions
ENSG00000110675	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530906439	chr11:107730871-107730872	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs12272957	chr11:107730875-107730876	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565166208	chr11:107730895-107730896	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs4754267	chr11:107730904-107730905	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs547522667	chr11:107730964-107730965	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs78752524	chr11:107731027-107731028	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs374868446	chr11:107731034-107731035	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs192286629	chr11:107731049-107731050	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs547863047	chr11:107731068-107731069	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107727800-107731000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr11:107727800-107731200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:107728400-107731000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:107728600-107731000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:107728600-107731000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr11:107728600-107731000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr11:107728600-107731000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:107728800-107731000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr11:107728800-107731000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr11:107728800-107731000	Active TSS	NHDF-Ad	bronchial
11	chr11:107728800-107731200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:107729000-107731000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:107729000-107731000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
14	chr11:107729000-107731000	Active TSS	HepG2	liver
15	chr11:107729200-107731000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
16	chr11:107729200-107731000	Active TSS	NHLF	lung
17	chr11:107729400-107731200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr11:107729600-107731000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr11:107729600-107731000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:107729600-107731000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:107729600-107731000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:107729600-107731600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr11:107730400-107731000	Flanking Active TSS	K562	blood
24	chr11:107730600-107731000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:107730600-107731000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr11:107730600-107731000	Active TSS	Brain Anterior Caudate	brain
27	chr11:107730600-107731000	Bivalent Enhancer	Fetal Brain Male	brain
28	chr11:107730600-107731000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr11:107730600-107731000	Flanking Active TSS	A549	lung
30	chr11:107730600-107731200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:107730600-107731200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr11:107730800-107731000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr11:107730800-107731000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
34	chr11:107730800-107731000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr11:107730800-107731000	Enhancers	Primary hematopoietic stem cells	blood
36	chr11:107730800-107731000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:107730800-107731000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:107730800-107731000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr11:107730800-107731000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr11:107730800-107731000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr11:107730800-107731000	Enhancers	Liver	Liver
42	chr11:107730800-107731000	Enhancers	Colon Smooth Muscle	Colon
43	chr11:107730800-107731000	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr11:107730800-107731000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr11:107730800-107731000	Enhancers	Fetal Kidney	kidney
46	chr11:107730800-107731000	Bivalent Enhancer	Fetal Stomach	stomach
47	chr11:107730800-107731000	Flanking Active TSS	GM12878-XiMat	blood
48	chr11:107730800-107731000	Flanking Active TSS	Hela-S3	cervix
49	chr11:107730800-107731000	Active TSS	HUVEC	blood vessel
50	chr11:107730800-107731000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood

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