Variant report

Variant	nsv206497
Chromosome Location	chr2:40010730-40010733
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	BCL3	chr2:40010306-40010883	GM12878	blood:	n/a	n/a
2	BHLHE40	chr2:40009871-40010944	K562	blood:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010413-40010434 chr2:40010448-40010457
3	FOS	chr2:40010568-40010850	MCF10A-Er-Src	breast:	n/a	chr2:40010684-40010695
4	FOS	chr2:40010289-40010855	MCF10A-Er-Src	breast:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
5	FOS	chr2:40010319-40010819	MCF10A-Er-Src	breast:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
6	FOS	chr2:40010341-40010853	MCF10A-Er-Src	breast:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
7	FOS	chr2:40010396-40010843	HUVEC	blood vessel:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
8	FOSL1	chr2:40010281-40011032	HCT-116	colon:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
9	FOSL1	chr2:40010604-40010829	K562	blood:	n/a	chr2:40010684-40010695
10	FOSL1	chr2:40010464-40010850	K562	blood:	n/a	chr2:40010684-40010695
11	FOSL1	chr2:40010112-40011000	HCT-116	colon:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
12	FOSL2	chr2:40010342-40010997	MCF-7	breast:	n/a	chr2:40010453-40010461
13	FOSL2	chr2:40010246-40011099	SK-N-SH	brain:	n/a	chr2:40010453-40010461
14	FOSL2	chr2:40010374-40011010	MCF-7	breast:	n/a	chr2:40010453-40010461
15	GABPA	chr2:40010289-40010954	MCF-7	breast:	n/a	n/a
16	GATA3	chr2:40010305-40010986	MCF-7	breast:	n/a	n/a
17	GATA3	chr2:40010379-40010931	MCF-7	breast:	n/a	n/a
18	JUN	chr2:40010359-40010827	K562	blood:	n/a	chr2:40010453-40010461
19	JUND	chr2:40010019-40011069	HCT-116	colon:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
20	JUND	chr2:40009789-40010883	K562	blood:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
21	JUND	chr2:40010326-40011014	MCF-7	breast:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
22	JUND	chr2:40010335-40011010	SK-N-SH	brain:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
23	JUND	chr2:40010343-40010851	HepG2	liver:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
24	JUND	chr2:40010133-40011137	SK-N-SH	brain:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
25	JUND	chr2:40010315-40011083	MCF-7	breast:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
26	JUND	chr2:40010272-40011003	HCT-116	colon:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
27	MAX	chr2:40010062-40010780	K562	blood:	n/a	chr2:40010419-40010428 chr2:40010417-40010430 chr2:40010448-40010457
28	MAX	chr2:40010313-40010940	MCF-7	breast:	n/a	chr2:40010419-40010428 chr2:40010417-40010430 chr2:40010448-40010457
29	MYC	chr2:40010586-40010775	MCF10A-Er-Src	breast:	n/a	n/a
30	RCOR1	chr2:40009741-40010803	K562	blood:	n/a	n/a
31	SIN3AK20	chr2:40010298-40011034	MCF-7	breast:	n/a	n/a
32	SP1	chr2:40010094-40011016	HCT-116	colon:	n/a	chr2:40010372-40010386 chr2:40010372-40010382 chr2:40010371-40010383 chr2:40010372-40010382 chr2:40010371-40010383
33	USF1	chr2:40010090-40010980	HCT-116	colon:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010418-40010429 chr2:40010447-40010458 chr2:40010413-40010434 chr2:40010448-40010457
34	USF1	chr2:40010225-40010758	K562	blood:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010418-40010429 chr2:40010447-40010458 chr2:40010413-40010434 chr2:40010448-40010457
35	USF1	chr2:40009942-40010921	HCT-116	colon:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010418-40010429 chr2:40010447-40010458 chr2:40010413-40010434 chr2:40010448-40010457
36	USF1	chr2:40010156-40010780	SK-N-SH	brain:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010418-40010429 chr2:40010447-40010458 chr2:40010413-40010434 chr2:40010448-40010457
37	ZNF217	chr2:40010492-40010882	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40006031..40007593-chr2:40009599..40011683,2	MCF-7	breast:
2	chr2:40004284..40008257-chr2:40008263..40012278,6	MCF-7	breast:

Variant related genes	Relation type
SLC8A1-AS1	TF binding region
THUMPD2	TF binding region
ENSG00000138050	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145567925	chr2:40010730-40010731	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs201326033	chr2:40010732-40010733	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs57350192	chr2:40010733-40010734	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40006800-40014000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:40008800-40013200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:40009000-40013200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:40009200-40013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:40009200-40013800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:40010000-40011000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:40010000-40011000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:40010000-40011000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:40010000-40011000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:40010000-40011000	Enhancers	HMEC	breast
11	chr2:40010000-40011000	Enhancers	NHEK	skin
12	chr2:40010000-40013200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:40010400-40010800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:40010400-40011000	Enhancers	NH-A	brain
15	chr2:40010400-40011000	Enhancers	NHDF-Ad	bronchial
16	chr2:40010600-40010800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:40010600-40010800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:40010600-40015200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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