Variant report

Variant	esv3529956
Chromosome Location	chr4:186858568-186863126
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	chr4:186858339-186858595	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr4:186862767-186862939	Hela-S3	cervix:	n/a	chr4:186862871-186862884 chr4:186862871-186862882 chr4:186862871-186862884
3	CEBPB	chr4:186862747-186863000	HepG2	liver:	n/a	chr4:186862871-186862884 chr4:186862871-186862882 chr4:186862871-186862884
4	E2F4	chr4:186862629-186862935	MCF10A-Er-Src	breast:	n/a	chr4:186862860-186862869
5	E2F4	chr4:186861666-186861693	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr4:186862724-186862960	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr4:186862781-186862896	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr4:186857745-186858618	H1-neurons	neurons:	n/a	n/a
9	REST	chr4:186857792-186858570	H1-neurons	neurons:	n/a	n/a
10	REST	chr4:186857617-186858822	H1-neurons	neurons:	n/a	n/a
11	STAT3	chr4:186862700-186862855	MCF10A-Er-Src	breast:	n/a	chr4:186862716-186862727
12	STAT3	chr4:186862587-186862874	MCF10A-Er-Src	breast:	n/a	chr4:186862716-186862727
13	STAT3	chr4:186862572-186862795	MCF10A-Er-Src	breast:	n/a	chr4:186862716-186862727

Variant related genes	Relation type
SORBS2	TF binding region
ENSG00000239034	TF binding region

Extended variants
information (count: 222 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:222 , 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	rs568868703	chr4:186858569-186858570	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs187909387	chr4:186858624-186858625	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs144784276	chr4:186858648-186858649	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs531948622	chr4:186858682-186858683	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548676753	chr4:186858705-186858706	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs28441507	chr4:186858706-186858707	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs77748290	chr4:186858742-186858743	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191275503	chr4:186858758-186858759	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs183081784	chr4:186858776-186858777	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566651508	chr4:186858804-186858805	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs538589189	chr4:186858870-186858871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558439670	chr4:186858900-186858901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75048596	chr4:186858906-186858907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376071788	chr4:186858941-186858942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537670607	chr4:186858972-186858973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117319503	chr4:186858975-186858976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374118873	chr4:186858977-186858978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187244721	chr4:186859048-186859049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11930217	chr4:186859104-186859105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192271574	chr4:186859132-186859133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143069367	chr4:186859161-186859162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201639371	chr4:186859162-186859163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529655739	chr4:186859163-186859164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75540576	chr4:186859180-186859181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553774200	chr4:186859188-186859189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377251344	chr4:186859205-186859206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10024864	chr4:186859217-186859218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373128766	chr4:186859233-186859234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563199577	chr4:186859236-186859237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576863302	chr4:186859257-186859258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10024968	chr4:186859282-186859283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577209506	chr4:186859298-186859299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9991822	chr4:186859331-186859332	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551755975	chr4:186859338-186859339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116161932	chr4:186859354-186859355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547465970	chr4:186859368-186859369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184702305	chr4:186859371-186859372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141977500	chr4:186859372-186859373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552024863	chr4:186859376-186859377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115197125	chr4:186859379-186859380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537633874	chr4:186859394-186859395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544945796	chr4:186859399-186859400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561534142	chr4:186859415-186859416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568056851	chr4:186859427-186859428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533925497	chr4:186859451-186859452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11934657	chr4:186859452-186859453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187875772	chr4:186859509-186859510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539457243	chr4:186859532-186859533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35369073	chr4:186859543-186859544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567787881	chr4:186859544-186859545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17086460	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186847600-186864200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:186847800-186872400	Weak transcription	Right Atrium	heart
3	chr4:186853800-186858600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:186857000-186858600	Enhancers	Fetal Brain Male	brain
5	chr4:186857200-186860200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:186858200-186859600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:186858200-186859800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:186858600-186858800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:186858600-186859400	Weak transcription	Fetal Brain Male	brain
10	chr4:186858800-186859400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:186859400-186860600	Enhancers	Fetal Brain Male	brain
12	chr4:186859600-186859800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:186859800-186860000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:186859800-186860200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:186859800-186860200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:186859800-186860200	Enhancers	Fetal Brain Female	brain
17	chr4:186859800-186860400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr4:186860200-186863200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:186863000-186865800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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