Variant report

Variant	esv3347913
Chromosome Location	chr4:160475327-160476480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563715526	chr4:160475330-160475331	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs140778410	chr4:160475402-160475403	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs543078822	chr4:160475446-160475447	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs6839557	chr4:160475536-160475537	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532472963	chr4:160475587-160475588	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs551897532	chr4:160475598-160475599	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs376517374	chr4:160475605-160475606	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs529400331	chr4:160475624-160475625	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs6839759	chr4:160475639-160475640	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559737149	chr4:160475640-160475641	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs10693794	chr4:160475681-160475682	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs67311139	chr4:160475682-160475683	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs10646550	chr4:160475683-160475684	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528767086	chr4:160475698-160475699	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs57412754	chr4:160475713-160475714	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs150107318	chr4:160475741-160475742	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs182435186	chr4:160475745-160475746	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs6839982	chr4:160475754-160475755	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536472780	chr4:160475777-160475778	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs555140257	chr4:160475795-160475796	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs567767275	chr4:160475832-160475833	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs6840564	chr4:160475855-160475856	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555519904	chr4:160475893-160475894	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs572172868	chr4:160475910-160475911	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs540880300	chr4:160475917-160475918	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs534885344	chr4:160475939-160475940	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557653354	chr4:160475995-160475996	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs577171593	chr4:160475996-160475997	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543023949	chr4:160476008-160476009	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs559014853	chr4:160476042-160476043	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs562984721	chr4:160476048-160476049	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs573676363	chr4:160476049-160476050	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs372442890	chr4:160476077-160476078	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs542384740	chr4:160476113-160476114	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs188302990	chr4:160476135-160476136	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs528692477	chr4:160476193-160476194	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145744997	chr4:160476228-160476229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs66891709	chr4:160476229-160476230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374653593	chr4:160476238-160476239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554504950	chr4:160476276-160476277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568233336	chr4:160476307-160476308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116298885	chr4:160476359-160476360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192539948	chr4:160476380-160476381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550982423	chr4:160476390-160476391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371526581	chr4:160476392-160476393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370411282	chr4:160476415-160476416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567694013	chr4:160476435-160476436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577349060	chr4:160476460-160476461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19805367	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160470600-160478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:160473000-160476600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:160474200-160476200	Active TSS	Pancreas	Pancrea
4	chr4:160474600-160478800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:160474600-160479400	Weak transcription	H1 Cell Line	embryonic stem cell

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