Variant report

Variant	esv2456671
Chromosome Location	chr4:147852567-147853859
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	FOS	chr4:147853323-147853502	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr4:147853373-147853591	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr4:147853371-147853572	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr4:147853304-147853530	T-47D	breast:	n/a	n/a
5	POLR2A	chr4:147852491-147852569	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr4:147853367-147853415	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr4:147853540-147853767	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr4:147853445-147853518	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000248764	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191431261	chr4:147852588-147852589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114182795	chr4:147852597-147852598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183420982	chr4:147852616-147852617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569018246	chr4:147852652-147852653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10519843	chr4:147852655-147852656	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567228786	chr4:147852715-147852716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149697912	chr4:147852798-147852799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550200460	chr4:147852809-147852810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145493315	chr4:147852849-147852850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555935491	chr4:147852915-147852916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577661914	chr4:147852916-147852917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374475740	chr4:147852917-147852918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187132991	chr4:147853008-147853009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148825964	chr4:147853027-147853028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559071955	chr4:147853044-147853045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114900493	chr4:147853067-147853068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534754817	chr4:147853111-147853112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536342122	chr4:147853139-147853140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367842993	chr4:147853199-147853200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62328057	chr4:147853218-147853219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543830566	chr4:147853238-147853239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190819214	chr4:147853250-147853251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142536483	chr4:147853323-147853324	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs555491043	chr4:147853334-147853335	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs183373876	chr4:147853410-147853411	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs565024771	chr4:147853521-147853522	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs527489586	chr4:147853527-147853528	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs72960366	chr4:147853531-147853532	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs80288504	chr4:147853539-147853540	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs561009944	chr4:147853541-147853542	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs7667564	chr4:147853554-147853555	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549781396	chr4:147853569-147853570	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs562385661	chr4:147853593-147853594	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs534374640	chr4:147853628-147853629	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs532811286	chr4:147853650-147853651	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs79480774	chr4:147853653-147853654	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs565927615	chr4:147853720-147853721	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs6537436	chr4:147853737-147853738	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554621617	chr4:147853762-147853763	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs568252055	chr4:147853777-147853778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537168039	chr4:147853794-147853795	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147849400-147853200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:147851600-147853600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:147851800-147853400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:147852200-147853600	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:147852200-147853600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:147852600-147853000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:147852600-147853000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:147852600-147853000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:147852600-147853400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:147852800-147853400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:147853000-147853600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:147853200-147853800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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