Variant report

Variant	nsv517466
Chromosome Location	chr2:185756082-185778262
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	CEBPB	chr2:185770980-185771178	K562	blood:	n/a	chr2:185771081-185771092
2	CEBPB	chr2:185770939-185771187	A549	lung:	n/a	chr2:185771081-185771092
3	CEBPB	chr2:185770919-185771224	HepG2	liver:	n/a	chr2:185771081-185771092
4	CEBPB	chr2:185770949-185771222	H1-hESC	embryonic stem cell:	n/a	chr2:185771081-185771092
5	CEBPB	chr2:185760846-185760850	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:185770931-185771262	IMR90	lung:	n/a	chr2:185771081-185771092
7	EBF1	chr2:185775143-185775264	GM12878	blood:	n/a	chr2:185775199-185775210
8	EBF1	chr2:185771426-185771652	GM12878	blood:	n/a	n/a
9	FAM48A	chr2:185773912-185774050	GM12878	blood:	n/a	n/a
10	FOXA1	chr2:185755726-185756175	HepG2	liver:	n/a	n/a
11	IRF1	chr2:185763204-185763243	K562	blood:	n/a	n/a
12	IRF1	chr2:185763544-185763735	K562	blood:	n/a	n/a
13	JUND	chr2:185771608-185771675	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAFK	chr2:185758057-185758309	HepG2	liver:	n/a	chr2:185758197-185758208 chr2:185758196-185758207 chr2:185758195-185758209 chr2:185758197-185758208 chr2:185758192-185758208
15	MYC	chr2:185762925-185763027	MCF10A-Er-Src	breast:	n/a	n/a
16	NFYB	chr2:185761027-185761160	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:185757544-185757720	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr2:185775007-185775429	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr2:185765000-185765192	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr2:185770668-185770701	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr2:185760434-185760778	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr2:185769715-185769718	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr2:185759472-185759561	MCF-7	breast:	n/a	n/a
24	SPI1	chr2:185771486-185771714	K562	blood:	n/a	n/a
25	SPI1	chr2:185771424-185771815	HL-60	blood:	n/a	n/a
26	SPI1	chr2:185771455-185771822	GM12891	blood:	n/a	n/a
27	SPI1	chr2:185771361-185771742	GM12891	blood:	n/a	n/a
28	SPI1	chr2:185771454-185771656	GM12878	blood:	n/a	n/a
29	SPI1	chr2:185771406-185771799	HL-60	blood:	n/a	n/a
30	SRF	chr2:185759435-185759577	GM12878	blood:	n/a	n/a
31	STAT3	chr2:185767725-185767925	MCF10A-Er-Src	breast:	n/a	chr2:185767871-185767882
32	STAT3	chr2:185761372-185761542	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr2:185778196-185778396	MCF10A-Er-Src	breast:	n/a	n/a
34	TAL1	chr2:185771534-185771794	K562	blood:	n/a	n/a
35	TAL1	chr2:185763078-185763384	K562	blood:	n/a	n/a
36	TBL1XR1	chr2:185758097-185758112	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000237824	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528219772	chr2:185767750-185767751	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs17431722	chr2:185767753-185767754	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1366840	chr2:185767854-185767855	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs529123759	chr2:185767858-185767859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs146201345	chr2:185767897-185767898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs72518618	chr2:185769821-185769822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200689660	chr2:185769822-185769823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182897955	chr2:185769847-185769848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532630118	chr2:185769853-185769854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549724712	chr2:185769908-185769909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151243306	chr2:185769914-185769915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554135600	chr2:185769918-185769919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10497662	chr2:185769921-185769922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188807548	chr2:185769922-185769923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532419518	chr2:185769930-185769931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537450853	chr2:185769988-185769989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191552265	chr2:185770011-185770012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571299808	chr2:185770013-185770014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538702295	chr2:185770074-185770075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553721976	chr2:185770109-185770110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571928798	chr2:185770116-185770117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184245163	chr2:185770125-185770126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112704846	chr2:185770134-185770135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554447849	chr2:185770139-185770140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1835172	chr2:185770241-185770242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140538754	chr2:185770242-185770243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188597812	chr2:185770295-185770296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565279479	chr2:185770316-185770317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191335031	chr2:185770414-185770415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541529876	chr2:185770435-185770436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145869147	chr2:185770458-185770459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373243327	chr2:185770485-185770486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530320267	chr2:185770546-185770547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183519396	chr2:185770555-185770556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570402002	chr2:185770564-185770565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531230048	chr2:185770600-185770601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549537094	chr2:185770629-185770630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571209486	chr2:185770637-185770638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146638869	chr2:185770641-185770642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547114262	chr2:185770694-185770695	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565392690	chr2:185770748-185770749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186573519	chr2:185770823-185770824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554335345	chr2:185770839-185770840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576305719	chr2:185770891-185770892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547838796	chr2:185770894-185770895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376064025	chr2:185771041-185771042	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs537330810	chr2:185771047-185771048	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs558537330	chr2:185771048-185771049	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs141326418	chr2:185771066-185771067	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs537132372	chr2:185771082-185771083	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185769800-185770000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:185770000-185770600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:185770200-185770400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:185770200-185771200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:185770400-185771400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:185770600-185771000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:185771000-185771400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:185771000-185772000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:185771200-185772200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:185771400-185771600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:185771400-185772000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:185771400-185772000	Enhancers	Fetal Heart	heart
13	chr2:185771800-185772200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:185772800-185773000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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