Variant report

Variant	esv1807059
Chromosome Location	chr4:45005852-45010969
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	E2F4	chr4:45007075-45007175	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr4:45007061-45007463	GM12878	blood:	n/a	n/a
3	FOS	chr4:45006934-45007248	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007108-45007120
4	FOS	chr4:45006927-45007497	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007447-45007459 chr4:45007108-45007120
5	FOS	chr4:45006975-45007191	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007108-45007120
6	MXI1	chr4:45006585-45006604	H1-hESC	embryonic stem cell:	n/a	n/a
7	NFIC	chr4:45006971-45007473	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:45006975-45007368	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr4:45009439-45009558	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr4:45007001-45007384	H1-neurons	neurons:	n/a	n/a
11	RUNX3	chr4:45007183-45007597	GM12878	blood:	n/a	n/a
12	STAT3	chr4:45006931-45007239	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr4:45006952-45007154	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr4:45006953-45007272	MCF10A-Er-Src	breast:	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: 233 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4469117	chr4:45005852-45005853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563272239	chr4:45005873-45005874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114577271	chr4:45005930-45005931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187552393	chr4:45005946-45005947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75014553	chr4:45005999-45006000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528802167	chr4:45006030-45006031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532446050	chr4:45006048-45006049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547266956	chr4:45006071-45006072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550259661	chr4:45006114-45006115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568855057	chr4:45006133-45006134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375861079	chr4:45006148-45006149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535907869	chr4:45006228-45006229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138767115	chr4:45006236-45006237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569283376	chr4:45006258-45006259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547917963	chr4:45006298-45006299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75478219	chr4:45006375-45006376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141227658	chr4:45006403-45006404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74423034	chr4:45006422-45006423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534171025	chr4:45006435-45006436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573462167	chr4:45006439-45006440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372604354	chr4:45006461-45006462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114709848	chr4:45006484-45006485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9884381	chr4:45006507-45006508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs4377625	chr4:45006516-45006517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544706976	chr4:45006540-45006541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556887206	chr4:45006562-45006563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575258978	chr4:45006585-45006586	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs190902483	chr4:45006594-45006595	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs556900255	chr4:45006607-45006608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561467484	chr4:45006671-45006672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576640803	chr4:45006676-45006677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146945340	chr4:45006687-45006688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182582650	chr4:45006698-45006699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565477104	chr4:45006714-45006715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532822554	chr4:45006730-45006731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74442890	chr4:45006753-45006754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561707193	chr4:45006771-45006772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368588405	chr4:45006784-45006785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116016094	chr4:45006796-45006797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530143765	chr4:45006814-45006815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4505863	chr4:45006828-45006829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560613095	chr4:45006838-45006839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73246817	chr4:45006945-45006946	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534548631	chr4:45006988-45006989	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs74983770	chr4:45006997-45006998	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs565092393	chr4:45007008-45007009	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs367974383	chr4:45007041-45007042	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs556691803	chr4:45007091-45007092	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs575128330	chr4:45007110-45007111	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs75545415	chr4:45007148-45007149	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44998800-45006200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:45006200-45008400	Enhancers	HMEC	breast
3	chr4:45006200-45008600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:45006400-45006600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:45006400-45006800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:45006400-45007200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:45006400-45007400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:45006600-45007400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:45006800-45007400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:45007200-45007400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:45007200-45007400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:45007200-45007400	Enhancers	NH-A	brain
13	chr4:45007400-45012800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:45007400-45012800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:45009400-45009800	Enhancers	Fetal Heart	heart

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