Variant report

Variant	nsv964044
Chromosome Location	chr4:45007652-45034467
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	BHLHE40	chr4:45015052-45015122	K562	blood:	n/a	n/a
2	FOS	chr4:45024485-45024504	MCF10A-Er-Src	breast:	n/a	n/a
3	KAP1	chr4:45023149-45023590	K562	blood:	n/a	n/a
4	MAFK	chr4:45012771-45012884	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAZ	chr4:45023070-45023202	HepG2	liver:	n/a	n/a
6	MXI1	chr4:45022238-45022259	GM12878	blood:	n/a	n/a
7	MXI1	chr4:45030005-45030140	GM12878	blood:	n/a	n/a
8	NRF1	chr4:45014963-45014989	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:45031022-45031113	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:45016278-45016354	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr4:45025040-45025174	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr4:45033908-45034397	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr4:45015875-45015887	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr4:45009439-45009558	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr4:45011228-45011320	MCF10A-Er-Src	breast:	n/a	n/a
16	TCF7L2	chr4:45015216-45016023	HepG2	liver:	n/a	chr4:45015653-45015669 chr4:45015654-45015668
17	ZMIZ1	chr4:45013967-45014055	K562	blood:	n/a	n/a
18	ZNF143	chr4:45032350-45032540	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248744	TF binding region

Extended variants
information (count: 713 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6821483	chr4:45007652-45007653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371465001	chr4:45007709-45007710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6852218	chr4:45007837-45007838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs141718770	chr4:45007846-45007847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538556877	chr4:45007864-45007865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10009882	chr4:45007873-45007874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74839475	chr4:45007882-45007883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536284767	chr4:45007931-45007932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554585704	chr4:45007937-45007938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373109500	chr4:45007948-45007949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572998743	chr4:45007952-45007953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150595437	chr4:45007959-45007960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558896968	chr4:45007969-45007970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552116028	chr4:45007978-45007979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs66749922	chr4:45008032-45008033	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527389930	chr4:45008038-45008039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544478037	chr4:45008047-45008048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563236603	chr4:45008089-45008090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4632690	chr4:45008090-45008091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541842851	chr4:45008135-45008136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs36116617	chr4:45008154-45008155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4492035	chr4:45008165-45008166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4385111	chr4:45008185-45008186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556842315	chr4:45008229-45008230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138634014	chr4:45008238-45008239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564419310	chr4:45008255-45008256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568460223	chr4:45008257-45008258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532375576	chr4:45008276-45008277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149572335	chr4:45008334-45008335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569200765	chr4:45008384-45008385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146058484	chr4:45008455-45008456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79876337	chr4:45008457-45008458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115948036	chr4:45008479-45008480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367608994	chr4:45008481-45008482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372799465	chr4:45008504-45008505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548226045	chr4:45008513-45008514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7660094	chr4:45008537-45008538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs143705013	chr4:45008562-45008563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35422539	chr4:45008571-45008572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113162464	chr4:45008594-45008595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7665240	chr4:45008624-45008625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576855266	chr4:45008666-45008667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538466458	chr4:45008713-45008714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368425662	chr4:45008763-45008764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60306865	chr4:45008764-45008765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397953402	chr4:45008785-45008786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556309923	chr4:45008792-45008793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554215557	chr4:45008813-45008814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148565410	chr4:45008853-45008854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142911642	chr4:45008867-45008868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45006200-45008400	Enhancers	HMEC	breast
2	chr4:45006200-45008600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:45007400-45012800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:45007400-45012800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:45009400-45009800	Enhancers	Fetal Heart	heart
6	chr4:45012800-45014400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:45012800-45015200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:45013000-45014400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:45013600-45014200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:45013800-45014000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:45015000-45015400	Enhancers	Primary hematopoietic stem cells	blood
12	chr4:45029200-45029400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:45029400-45035800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:45031000-45031200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:45031200-45031800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:45031800-45032200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:45031800-45032400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:45032200-45038400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:45032400-45038600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:45033200-45035800	Enhancers	Fetal Heart	heart
21	chr4:45034200-45034400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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