Variant report

Variant	nsv821846
Chromosome Location	chr2:185753228-185774831
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	chr2:185760846-185760850	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:185770980-185771178	K562	blood:	n/a	chr2:185771081-185771092
3	CEBPB	chr2:185770949-185771222	H1-hESC	embryonic stem cell:	n/a	chr2:185771081-185771092
4	CEBPB	chr2:185770919-185771224	HepG2	liver:	n/a	chr2:185771081-185771092
5	CEBPB	chr2:185770939-185771187	A549	lung:	n/a	chr2:185771081-185771092
6	CEBPB	chr2:185770931-185771262	IMR90	lung:	n/a	chr2:185771081-185771092
7	EBF1	chr2:185771426-185771652	GM12878	blood:	n/a	n/a
8	FAM48A	chr2:185773912-185774050	GM12878	blood:	n/a	n/a
9	FOS	chr2:185754732-185754950	MCF10A-Er-Src	breast:	n/a	chr2:185754854-185754865
10	FOS	chr2:185754714-185755026	MCF10A-Er-Src	breast:	n/a	chr2:185754854-185754865
11	FOS	chr2:185754699-185755065	HUVEC	blood vessel:	n/a	chr2:185754854-185754865
12	FOS	chr2:185754708-185755026	MCF10A-Er-Src	breast:	n/a	chr2:185754854-185754865
13	FOS	chr2:185754761-185754961	MCF10A-Er-Src	breast:	n/a	chr2:185754854-185754865
14	FOXA1	chr2:185755726-185756175	HepG2	liver:	n/a	n/a
15	IRF1	chr2:185763204-185763243	K562	blood:	n/a	n/a
16	IRF1	chr2:185755057-185755432	K562	blood:	n/a	chr2:185755245-185755258 chr2:185755178-185755188 chr2:185755174-185755188 chr2:185755244-185755258 chr2:185755175-185755189 chr2:185755248-185755259 chr2:185755247-185755261 chr2:185755177-185755190 chr2:185755337-185755351 chr2:185755247-185755258 chr2:185755176-185755190 chr2:185755247-185755257 chr2:185755177-185755190 chr2:185755243-185755257 chr2:185755176-185755187 chr2:185755177-185755191
17	IRF1	chr2:185763544-185763735	K562	blood:	n/a	n/a
18	JUND	chr2:185771608-185771675	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFF	chr2:185754887-185755080	HepG2	liver:	n/a	n/a
20	MAFK	chr2:185754796-185755044	HepG2	liver:	n/a	n/a
21	MAFK	chr2:185754841-185754953	HepG2	liver:	n/a	n/a
22	MAFK	chr2:185758057-185758309	HepG2	liver:	n/a	chr2:185758197-185758208 chr2:185758196-185758207 chr2:185758195-185758209 chr2:185758197-185758208 chr2:185758192-185758208
23	MYC	chr2:185762925-185763027	MCF10A-Er-Src	breast:	n/a	n/a
24	NFYB	chr2:185761027-185761160	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:185757544-185757720	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr2:185770668-185770701	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr2:185765000-185765192	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr2:185759472-185759561	MCF-7	breast:	n/a	n/a
29	POLR2A	chr2:185769715-185769718	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr2:185760434-185760778	MCF10A-Er-Src	breast:	n/a	n/a
31	SPI1	chr2:185771424-185771815	HL-60	blood:	n/a	n/a
32	SPI1	chr2:185771455-185771822	GM12891	blood:	n/a	n/a
33	SPI1	chr2:185771406-185771799	HL-60	blood:	n/a	n/a
34	SPI1	chr2:185771361-185771742	GM12891	blood:	n/a	n/a
35	SPI1	chr2:185771454-185771656	GM12878	blood:	n/a	n/a
36	SPI1	chr2:185771486-185771714	K562	blood:	n/a	n/a
37	SRF	chr2:185759435-185759577	GM12878	blood:	n/a	n/a
38	STAT3	chr2:185761372-185761542	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr2:185754812-185754916	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr2:185767725-185767925	MCF10A-Er-Src	breast:	n/a	chr2:185767871-185767882
41	TAL1	chr2:185771534-185771794	K562	blood:	n/a	n/a
42	TAL1	chr2:185763078-185763384	K562	blood:	n/a	n/a
43	TBL1XR1	chr2:185758097-185758112	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000237824	TF binding region

Extended variants
information (count: 128 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77952435	chr2:185754611-185754612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75952632	chr2:185754644-185754645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76560832	chr2:185754648-185754649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536339656	chr2:185754684-185754685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114385979	chr2:185754801-185754802	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35884393	chr2:185754904-185754905	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181429251	chr2:185754906-185754907	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397868921	chr2:185754910-185754911	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186542289	chr2:185754981-185754982	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573550752	chr2:185754993-185754994	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191595151	chr2:185755048-185755049	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs540644811	chr2:185755087-185755088	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs16826270	chr2:185755110-185755111	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183498007	chr2:185755123-185755124	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs572143628	chr2:185755174-185755175	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559333248	chr2:185755218-185755219	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs142001775	chr2:185755275-185755276	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561164420	chr2:185755321-185755322	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs576140758	chr2:185755347-185755348	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187818638	chr2:185755363-185755364	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543178939	chr2:185755383-185755384	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs190793709	chr2:185755392-185755393	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs11681326	chr2:185755616-185755617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556345802	chr2:185755685-185755686	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs547428252	chr2:185755710-185755711	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559484865	chr2:185755712-185755713	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115662676	chr2:185755782-185755783	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs139851450	chr2:185755877-185755878	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs570103616	chr2:185755899-185755900	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs537665954	chr2:185755949-185755950	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs552758616	chr2:185755962-185755963	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs77819662	chr2:185755972-185755973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs528219772	chr2:185767750-185767751	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs17431722	chr2:185767753-185767754	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1366840	chr2:185767854-185767855	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs529123759	chr2:185767858-185767859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs146201345	chr2:185767897-185767898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs72518618	chr2:185769821-185769822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200689660	chr2:185769822-185769823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182897955	chr2:185769847-185769848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532630118	chr2:185769853-185769854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549724712	chr2:185769908-185769909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151243306	chr2:185769914-185769915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554135600	chr2:185769918-185769919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10497662	chr2:185769921-185769922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188807548	chr2:185769922-185769923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532419518	chr2:185769930-185769931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537450853	chr2:185769988-185769989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191552265	chr2:185770011-185770012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571299808	chr2:185770013-185770014	Enhancers	n/a	n/a	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185754600-185755200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:185754800-185755000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:185754800-185755200	Enhancers	NH-A	brain
4	chr2:185755000-185755200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:185755000-185755200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:185755000-185755200	Enhancers	Ovary	ovary
7	chr2:185755000-185755400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:185755000-185755400	Active TSS	NHLF	lung
9	chr2:185755600-185756000	Active TSS	Liver	Liver
10	chr2:185769800-185770000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:185770000-185770600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:185770200-185770400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:185770200-185771200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:185770400-185771400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:185770600-185771000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:185771000-185771400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:185771000-185772000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:185771200-185772200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:185771400-185771600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:185771400-185772000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:185771400-185772000	Enhancers	Fetal Heart	heart
22	chr2:185771800-185772200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:185772800-185773000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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