Variant report

Variant	esv3378454
Chromosome Location	chr4:131012636-131013160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547670186	chr4:131012636-131012637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527716424	chr4:131012648-131012649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4554094	chr4:131012650-131012651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115795159	chr4:131012674-131012675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546590905	chr4:131012694-131012695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561093796	chr4:131012705-131012706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148731775	chr4:131012727-131012728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552103401	chr4:131012753-131012754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59785944	chr4:131012757-131012758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529211864	chr4:131012758-131012759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537638982	chr4:131012771-131012772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577197148	chr4:131012778-131012779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28415658	chr4:131012781-131012782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs373762488	chr4:131012785-131012786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567723808	chr4:131012788-131012789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543763266	chr4:131012819-131012820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563927662	chr4:131012843-131012844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113429974	chr4:131012856-131012857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139718074	chr4:131012871-131012872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577618059	chr4:131012887-131012888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13150131	chr4:131012928-131012929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs13122937	chr4:131012934-131012935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs72289685	chr4:131012961-131012962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77090224	chr4:131012964-131012965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372484537	chr4:131012965-131012966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11933646	chr4:131012968-131012969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72678144	chr4:131013045-131013046	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185831399	chr4:131013046-131013047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572938001	chr4:131013050-131013051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144483042	chr4:131013065-131013066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11933622	chr4:131013066-131013067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532139109	chr4:131013067-131013068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543904846	chr4:131013102-131013103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11933661	chr4:131013140-131013141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease

Variant related diseases (count:72)

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
Thoracic aortic aneurysm	21092924	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
Breast cancer	16272173	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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131008200-131013400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:131013000-131014000	Enhancers	Fetal Stomach	stomach

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